Human Gene Module / Chromosome 9 / ANXA1

ANXA1Annexin A1

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
8 / 0
Aliases
ANXA1, RP11-71A24.1,  ANX1,  LPC1, ANXA1
Associated Syndromes
-
Chromosome Band
9q21.13
Associated Disorders
-
Relevance to Autism

A recurrent duplication overlapping the last four exons and 3'UTR region of the ANXA1 gene was found to have an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls (P=4.64 x 10-5) (Correia et al., 2014).

Molecular Function

This gene encodes a calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis, as well as regulates phospholipase A2 activity.

External Links
Gene CardOpen Targets PlatformgnomAD browserSynGO portalPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to ANXA1 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders Correia CT , et al. (2014) Yes -
2 Support Synaptic, transcriptional and chromatin genes disrupted in autism De Rubeis S , et al. (2014) Yes -
Rare Variants   (8)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_gain Familial Maternal Simplex 24720851 Correia CT , et al. (2014)
- - copy_number_gain Familial Paternal Simplex 24720851 Correia CT , et al. (2014)
- - copy_number_gain Familial Maternal Unknown 24720851 Correia CT , et al. (2014)
- - copy_number_gain Familial Paternal Unknown 24720851 Correia CT , et al. (2014)
- - copy_number_gain Familial Maternal Multiplex 24720851 Correia CT , et al. (2014)
- - copy_number_gain Familial Paternal Multiplex 24720851 Correia CT , et al. (2014)
c.535G>A p.Ala179Thr missense_variant De novo - Simplex 25363760 De Rubeis S , et al. (2014)
- - copy_number_gain Familial - Multiplex (monozygotic twins) 24720851 Correia CT , et al. (2014)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

A recurrent duplication overlapping the last four exons and 3'UTR region of the ANXA1 gene was found to have an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls (P=4.64 x 10-5) (PMID 24720851). However, this duplication displayed incomplete segregation with ASD in some families, and its functional effect remains unclear.

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

10/1/2019
3
icon
2

Decreased from 3 to 2

New Scoring Scheme
Description

A recurrent duplication overlapping the last four exons and 3'UTR region of the ANXA1 gene was found to have an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls (P=4.64 x 10-5) (PMID 24720851). However, this duplication displayed incomplete segregation with ASD in some families, and its functional effect remains unclear.

Reports Added
[New Scoring Scheme]
1/1/2016
3
icon
3

Decreased from 3 to 3

Description

A recurrent duplication overlapping the last four exons and 3'UTR region of the ANXA1 gene was found to have an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls (P=4.64 x 10-5) (PMID 24720851). However, this duplication displayed incomplete segregation with ASD in some families, and its functional effect remains unclear.

Reports Added
[Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.2014] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014]
7/1/2014
No data
icon
3

Increased from No data to 3

Description

A recurrent duplication overlapping the last four exons and 3'UTR region of the ANXA1 gene was found to have an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls (P=4.64 x 10-5) (PMID 24720851). However, this duplication displayed incomplete segregation with ASD in some families, and its functional effect remains unclear.

4/1/2014
No data
icon
3

Increased from No data to 3

Description

A recurrent duplication overlapping the last four exons and 3'UTR region of the ANXA1 gene was found to have an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls (P=4.64 x 10-5) (PMID 24720851). However, this duplication displayed incomplete segregation with ASD in some families, and its functional effect remains unclear.

Krishnan Probability Score

Score 0.48485567450001

Ranking 7465/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
ExAC Score

Score 0.0004423701099517

Ranking 12273/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Original Source
Sanders TADA Score

Score 0.73160751123175

Ranking 1387/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Larsen Cumulative Evidence Score

Score 39

Ranking 50/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Original Source
Zhang D Score

Score 0.27636252239167

Ranking 3085/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Original Source
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
ANXA4 Annexin A4 Human Protein Binding 307 P09525
APBB1 Amyloid beta A4 precursor protein-binding family B member 1 Human Protein Binding 322 O00213
ATF2 activating transcription factor 2 Human Protein Binding 1386 P15336
ATG4B autophagy related 4B, cysteine peptidase Human Protein Binding 23192 B3KVU2
ATP4A Potassium-transporting ATPase alpha chain 1 Human Protein Binding 495 P20648
C14orf1 chromosome 14 open reading frame 1 Human Protein Binding 11161 Q6FII3
C1orf123 UPF0587 protein C1orf123 Human Protein Binding 54987 Q9NWV4
CCT7 chaperonin containing TCP1, subunit 7 (eta) Human Protein Binding 10574 Q99832
CD4 Keratin, type II cytoskeletal 8 Human Protein Binding 920 P05787
CDK2 cyclin-dependent kinase 2 Human Protein Binding 1017 P24941
COPS6 COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) Human Protein Binding 10980 Q7L5N1
CSAD Cysteine sulfinic acid decarboxylase Human Protein Binding 51380 Q9Y600
CUL5 cullin 5 Human Protein Binding 8065 Q93034
DDX19B ATP-dependent RNA helicase DDX19B Human Protein Binding 11269 Q9UMR2-2
DLG3 discs, large homolog 3 (Drosophila) Human Protein Binding 1741 Q92796
FAF1 Fas (TNFRSF6) associated factor 1 Human Protein Binding 11124 Q9UNN5
FN1 fibronectin 1 Human Protein Binding 2335 P02751
FRMD1 FERM domain-containing protein 1 Human Protein Binding 79981 Q8N878
HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Human Protein Binding 57520 Q9P2P5
HMGA1 high mobility group AT-hook 1 Human Protein Binding 3159 P17096
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma Human Protein Binding 8517 Q9Y6K9
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) Human Protein Binding 3676 P13612
KIR2DS2 Killer cell immunoglobulin-like receptor 2DS2 Human Protein Binding 100132285 P43631
KLHL23 kelch-like family member 23 Human Protein Binding 151230 Q8NBE8
KRT8 keratin 8 Human Protein Binding 3856 P05787
LRIF1 ligand dependent nuclear receptor interacting factor 1 Human Protein Binding 55791 Q5T3J3
MEIS2 Meis homeobox 2 Human Protein Binding 4212 B7Z6F6
MGMT O-6-methylguanine-DNA methyltransferase Human Protein Binding 4255 P16455
MLL4 lysine (K)-specific methyltransferase 2B Human Protein Binding 9757 Q9UMN6
OTUB1 OTU domain, ubiquitin aldehyde binding 1 Human Protein Binding 55611 B3KUV5
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B Human Protein Binding 5495 O75688
RELA v-rel reticuloendotheliosis viral oncogene homolog A (avian) Human Protein Binding 5970 Q04206
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 Human Protein Binding 8737 Q13546
RPA1 replication protein A1, 70kDa Human Protein Binding 6117 P27694
RPUSD3 RNA pseudouridylate synthase domain-containing protein 3 Human Protein Binding 285367 Q6P087-2
S100A11 Protein S100-A11 Human Protein Binding 6282 P31949
SLX1B Structure-specific endonuclease subunit SLX1 Human Protein Binding 79008 Q9BQ83
SUMO1 Small ubiquitin-related modifier 1 Mouse Protein Modification 22218 P63166
UBD ubiquitin D Human Protein Binding 10537 O15205
UBE2D1 ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) Human Protein Binding 7321 P51668
UBE2I ubiquitin-conjugating enzyme E2I Mouse Protein Modification 22196 P63280
UBE3A ubiquitin protein ligase E3A Human Protein Binding 7337 Q05086
UCHL5 ubiquitin carboxyl-terminal hydrolase L5 Human Protein Binding 51377 Q9Y5K5
UNC119 Protein unc-119 homolog A Human Protein Binding 9094 Q13432
USP25 ubiquitin specific peptidase 25 Human Protein Binding 29761 Q9UHP3
USPL1 ubiquitin specific peptidase like 1 Human Protein Binding 10208 Q5W0Q7
VCAM1 vascular cell adhesion molecule 1 Human Protein Binding 7412 P19320
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 Human Protein Binding 2547 P12956
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide Human Protein Binding 10971 P27348
Submit New Gene

Report an Error