Gene Scoring  /  Category 1   232 genes

Database updated on February 1, 2023

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S8
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S64
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S9
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic119
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S24
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic1S14
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation, Functional122
ABCE1ATP binding cassette subfamily E member 14Rare Single Gene Mutation13
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association, Functional130
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S62
AP2S1adaptor related protein complex 2 subunit sigma 119Rare Single Gene Mutation13
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S17
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional1S69
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S24
ANP32Aacidic nuclear phosphoprotein 32 family member A15Rare Single Gene Mutation, Functional14
ARF3ADP ribosylation factor 312Rare Single Gene Mutation, Syndromic15
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional129
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S40
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic128
AUTS2activator of transcription and developmental regulatorAUTS27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional156
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation17
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation17
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic, Functional1S24
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S16
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic1S8
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S29
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S58
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation119
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation, Functional111
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Syndromic, Functional16
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic, Functional122
CASZ1castor zinc finger 11Rare Single Gene Mutation16
CAMTA2calmodulin binding transcription activator 217Rare Single Gene Mutation, Syndromic13
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic, Functional1S49
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional114
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic, Functional1S13
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic, Functional1S69
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S12
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic, Functional1S37
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional1S84
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Syndromic, Functional110
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S15
CORO1Acoronin 1A16Rare Single Gene Mutation13
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association1S35
CPSF7cleavage and polyadenylation specific factor 711Rare Single Gene Mutation17
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic1S5
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional1S15
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional1S22
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic131
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association, Functional127
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic, Functional1S42
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S25
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S19
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation, Functional112
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional118
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S11
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S26
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Syndromic, Genetic Association, Functional116
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association, Functional116
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic, Functional127
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S66
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic, Functional1S18
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional1S35
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation15
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation16
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic1S21
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S52
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S51
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S64
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association, Functional152
GABRB2gamma-aminobutyric acid type A receptor subunit beta25Rare Single Gene Mutation14
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association, Functional146
GFAPglial fibrillary acidic protein17Rare Single Gene Mutation11
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation115
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation19
GNAI1G protein subunit alpha i17Rare Single Gene Mutation, Syndromic1S4
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation111
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Syndromic, Functional124
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional155
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional173
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation16
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation, Syndromic110
HIVEP2HIVEP zinc finger 26Rare Single Gene Mutation, Syndromic, Functional1S12
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic117
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S33
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association112
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional1S47
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S11
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic, Functional1S10
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation, Functional114
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic1S20
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association119
KDM3Blysine demethylase 3B5Rare Single Gene Mutation, Syndromic1S3
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional119
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional132
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic, Functional118
KIAA0232KIAA02324Rare Single Gene Mutation14
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic, Functional1S40
KDM2Blysine demethylase 2B12Rare Single Gene Mutation, Syndromic, Functional19
KLHL20kelch like family member 201Rare Single Gene Mutation, Syndromic, Functional14
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional1S28
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association1S17
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic, Functional121
LDB1LIM domain binding 110Rare Single Gene Mutation12
LRRC4Cleucine rich repeat containing 4C11Rare Single Gene Mutation12
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic116
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic, Functional1S22
MAP1Amicrotubule associated protein 1A15Rare Single Gene Mutation14
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional1S41
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S14
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S109
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S8
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S44
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S46
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S12
MKXmohawk homeobox10Rare Single Gene Mutation13
MSL3MSL complex subunit 3XRare Single Gene Mutation, Syndromic1S6
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional1S29
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional133
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S17
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic1S9
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S22
NCKAP1NCK-associated protein 12Rare Single Gene Mutation, Syndromic114
MYCBP2MYC binding protein 213Rare Single Gene Mutation, Syndromic17
NCOA1nuclear receptor coactivator 12Rare Single Gene Mutation14
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic, Functional132
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S33
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S17
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional19
NLGN3neuroligin 3XRare Single Gene Mutation, Genetic Association, Functional139
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Syndromic, Genetic Association139
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic1S11
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation, Syndromic110
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1103
NRXN2neurexin 211Rare Single Gene Mutation, Syndromic, Genetic Association114
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association, Functional123
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic1S26
NUP155nucleoporin 1555Rare Single Gene Mutation13
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic1S13
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic110
PAX5Paired box 59Rare Single Gene Mutation110
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S10
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S54
PHF12PHD finger protein 1217Rare Single Gene Mutation14
PHF2PHD finger protein 29Rare Single Gene Mutation18
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S14
PHF3PHD finger protein 36Rare Single Gene Mutation15
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S21
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional1S54
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S8
PPP1R9Bprotein phosphatase 1 regulatory subunit 9B17Rare Single Gene Mutation14
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic1S27
PPP5Cprotein phosphatase 5 catalytic subunit19Rare Single Gene Mutation13
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic1S7
PSMD12proteasome 26S subunit, non-ATPase 1217Rare Single Gene Mutation, Syndromic1S4
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association115
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S80
PRR14Lproline rich 14 like22Rare Single Gene Mutation15
PSMD11proteasome 26S subunit, non-ATPase 1117Rare Single Gene Mutation12
PSMD6proteasome 26S subunit, non-ATPase 63Rare Single Gene Mutation13
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation17
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic, Functional1S23
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic, Functional1S32
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation16
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional162
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association1S9
RFX3regulatory factor X39Rare Single Gene Mutation, Syndromic110
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association19
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional1S10
RUNX1T1RUNX1 partner transcriptional co-repressor 18Rare Single Gene Mutation13
SATB1SATB homeobox 13Rare Single Gene Mutation, Syndromic1S4
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S85
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic, Functional197
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic, Functional153
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic126
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic, Functional1S8
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic118
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S31
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional147
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S125
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S15
SKISKIproto-oncogene1Rare Single Gene Mutation15
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S44
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S20
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S26
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic, Functional118
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S16
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional1S19
SOS2SOS Ras/Rho guanine nucleotide exchange factor 214Rare Single Gene Mutation, Syndromic16
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S16
SPASTSpastin2Rare Single Gene Mutation, Syndromic114
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation, Syndromic19
SRPRASRP receptor subunit alpha11Rare Single Gene Mutation13
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S66
SYN1Synapsin 1XRare Single Gene Mutation, Functional124
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional1S84
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic, Functional1S14
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic1S7
TBCKTBC1 domain containing kinase4Rare Single Gene Mutation, Syndromic1S3
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic, Functional131
TBR1T-box, brain, 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional139
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic, Functional1S16
TBCELtubulin folding cofactor E like11Rare Single Gene Mutation13
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S62
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation, Syndromic19
TEKTEKreceptortyrosine kinase9Rare Single Gene Mutation13
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S19
TM9SF4transmembrane 9 superfamily member 420Rare Single Gene Mutation13
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic1S8
TLE3TLE family member 3, transcriptional corepressor15Rare Single Gene Mutation13
TRIM23tripartite motif containing 235Rare Single Gene Mutation17
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic, Functional139
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S30
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic, Functional1S30
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S47
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional15
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S39
TSHZ1teashirt zinc finger homeobox 118Rare Single Gene Mutation, Syndromic15
UBAP2Lubiquitin associated protein 2 like1Rare Single Gene Mutation, Syndromic15
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S17
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S14
VEZF1vascular endothelial zinc finger 117Rare Single Gene Mutation13
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S26
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S26
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional122
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional1S7
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S29
UBR1ubiquitin protein ligase E3 component n-recognin 115Rare Single Gene Mutation11
ZBTB21zinc finger and BTB domain containing 2121Rare Single Gene Mutation13
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation, Syndromic1S8
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic1S11
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic1S11
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