ZNF548zinc finger protein 548
Autism Reports / Total Reports
4 / 4Rare Variants / Common Variants
10 / 0Aliases
-Associated Syndromes
-Chromosome Band
19q13.43Associated Disorders
-Relevance to Autism
Rare inherited loss-of-function variants in the ZNF548 gene were identified in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified the ZNF548 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.00529); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.
Molecular Function
May be involved in transcriptional regulation.
External Links
SFARI Genomic Platforms
Reports related to ZNF548 (4 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Excess of rare, inherited truncating mutations in autism | Krumm N , et al. (2015) | Yes | - |
2 | Recent Recommendation | Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders | Li J , et al. (2017) | Yes | - |
3 | Support | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) | Yes | - |
4 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (10)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.178+73G>A | - | intron_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.101G>A | p.Trp34Ter | stop_gained | Familial | - | - | 28831199 | Li J , et al. (2017) | |
c.835C>T | p.Arg279Ter | stop_gained | Familial | Maternal | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.853C>T | p.Arg285Ter | stop_gained | Familial | Paternal | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.1394_1395del | p.Glu465ValfsTer6 | frameshift_variant | Familial | - | - | 28831199 | Li J , et al. (2017) | |
c.1483C>T | p.Gln495Ter | stop_gained | Familial | Maternal | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.1354_1355del | p.Trp452GlufsTer19 | frameshift_variant | Familial | - | - | 28831199 | Li J , et al. (2017) | |
c.323_324dup | p.Leu109PhefsTer146 | frameshift_variant | De novo | - | - | 31452935 | Feliciano P et al. (2019) | |
c.890del | p.Thr297AsnfsTer224 | frameshift_variant | Familial | Paternal | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.890_891del | p.Thr297MetfsTer13 | frameshift_variant | Familial | Maternal | Simplex | 25961944 | Krumm N , et al. (2015) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
Rare inherited loss-of-function variants in the ZNF548 gene were identified in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified the ZNF548 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.00529); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe 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.
4/1/2022
Decreased from 3 to 2
Description
Rare inherited loss-of-function variants in the ZNF548 gene were identified in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified the ZNF548 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.00529); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
Rare inherited loss-of-function variants in the ZNF548 gene were identified in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified the ZNF548 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.00529); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.
7/1/2017
Increased from to 4
Description
Rare inherited loss-of-function variants in the ZNF548 gene were identified in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified the ZNF548 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.00529); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.
Krishnan Probability Score
Score 0.47999448855139
Ranking 8095/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.09957354340178
Ranking 7854/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.88131344028195
Ranking 4922/18665 scored genes
[Show Scoring Methodology]