CASZ1castor zinc finger 1
Autism Reports / Total Reports
5 / 8Rare Variants / Common Variants
44 / 0Aliases
CASZ1, CAS11, CST, SRG, ZNF693, dJ734G22.1Associated Syndromes
-Chromosome Band
1p36.22Associated Disorders
IDGenetic Category
Rare Single Gene MutationRelevance to Autism
De novo likely gene-disruptive (LGD) variants in the CASZ1 gene have been identified in two ASD-affected siblings from a multiplex family (Yuen et al., 2017), one proband with intellectual disability (Lelieveld et al., 2016), and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified CASZ1 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1) (Coe et al., 2018).
Molecular Function
The protein encoded by this gene is a zinc finger transcription factor and may function as a tumor suppressor.
External Links
SFARI Genomic Platforms
Reports related to CASZ1 (8 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability | Lelieveld SH et al. (2016) | No | - |
2 | Support | Prevalence and architecture of de novo mutations in developmental disorders | et al. (2017) | No | - |
3 | Primary | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) | Yes | - |
4 | Recent Recommendation | Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity | Coe BP , et al. (2018) | No | - |
5 | Support | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders | Wang T et al. (2020) | Yes | ID |
6 | Support | - | Zhou X et al. (2022) | Yes | - |
7 | Support | - | Yuan B et al. (2023) | Yes | - |
8 | Support | - | Suhua Chang et al. () | Yes | - |
Rare Variants (44)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.2689C>T | p.Gln897Ter | stop_gained | De novo | - | - | 28135719 | et al. (2017) | |
c.1738-2A>G | p.? | splice_site_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.512C>G | p.Ala171Gly | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.644C>T | p.Pro215Leu | missense_variant | De novo | - | - | 36881370 | Yuan B et al. (2023) | |
c.1841G>A | p.Arg614His | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2290G>A | p.Ala764Thr | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3782G>A | p.Trp1261Ter | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.4219G>A | p.Glu1407Lys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.92del | p.Leu31ArgfsTer8 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.163del | p.Glu55ArgfsTer33 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.575C>G | XP_005263536.1:p.Ser192Ter | stop_gained | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.4953del | p.Asp1653ThrfsTer190 | frameshift_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.178G>A | XP_005263536.1:p.Ala60Thr | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.352G>A | XP_005263536.1:p.Gly118Arg | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.596G>A | XP_005263536.1:p.Arg199Gln | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1183G>T | XP_005263536.1:p.Gly395Trp | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1693G>A | XP_005263536.1:p.Gly565Ser | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1849G>A | XP_005263536.1:p.Glu617Lys | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.1918G>A | XP_005263536.1:p.Gly640Ser | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2165G>A | XP_005263536.1:p.Arg722His | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2242G>A | XP_005263536.1:p.Asp748Asn | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2893G>A | XP_005263536.1:p.Glu965Lys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2717del | p.Pro906ArgfsTer4 | frameshift_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.3509C>T | XP_005263536.1:p.Thr1170Met | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3809G>A | XP_005263536.1:p.Arg1270His | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3818G>T | XP_005263536.1:p.Cys1273Phe | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3884G>A | XP_005263536.1:p.Arg1295Gln | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3884G>C | XP_005263536.1:p.Arg1295Pro | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3983G>A | XP_005263536.1:p.Arg1328Gln | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.4123G>A | XP_005263536.1:p.Asp1375Asn | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.4207C>T | XP_005263536.1:p.Pro1403Ser | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.4210G>A | XP_005263536.1:p.Val1404Met | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.4213G>T | XP_005263536.1:p.Gly1405Cys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.4328C>T | XP_005263536.1:p.Ala1443Val | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.4337G>A | XP_005263536.1:p.Arg1446Gln | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.4672C>A | XP_005263536.1:p.Arg1558Ser | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.5128_5142del | p.Asp1710_Asp1714del | inframe_deletion | De novo | - | Simplex | 39126614 | Suhua Chang et al. () | |
c.4613del | p.Gly1538AlafsTer5 | frameshift_variant | De novo | - | Simplex | 27479843 | Lelieveld SH et al. (2016) | |
c.820G>A | XP_005263536.1:p.Glu274Lys | missense_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.3983G>A | XP_005263536.1:p.Arg1328Gln | missense_variant | Unknown | - | Simplex | 33004838 | Wang T et al. (2020) | |
c.4403dup | p.Cys1469LeufsTer358 | frameshift_variant | De novo | - | Multiplex | 28263302 | C Yuen RK et al. (2017) | |
c.1693G>A | XP_005263536.1:p.Gly565Ser | missense_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.3424G>A | XP_005263536.1:p.Ala1142Thr | missense_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.3428G>C | XP_005263536.1:p.Trp1143Ser | missense_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence
Score Delta: Score remained at 1
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.
10/1/2020
Score remained at 1
Description
De novo likely gene-disruptive (LGD) variants in the CASZ1 gene have been identified in two ASD-affected siblings from a multiplex family (Yuen et al., 2017), one proband with intellectual disability (Lelieveld et al., 2016), and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified CASZ1 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1) (Coe et al., 2018).
10/1/2019
Decreased from 3 to 1
New Scoring Scheme
Description
De novo likely gene-disruptive (LGD) variants in the CASZ1 gene have been identified in two ASD-affected siblings from a multiplex family (Yuen et al., 2017), one proband with intellectual disability (Lelieveld et al., 2016), and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified CASZ1 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1) (Coe et al., 2018).
Reports Added
[New Scoring Scheme]1/1/2019
Increased from to 3
Description
De novo likely gene-disruptive (LGD) variants in the CASZ1 gene have been identified in two ASD-affected siblings from a multiplex family (Yuen et al., 2017), one proband with intellectual disability (Lelieveld et al., 2016), and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified CASZ1 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1) (Coe et al., 2018).
Krishnan Probability Score
Score 0.4085263468816
Ranking 22930/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.99993847632778
Ranking 607/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.9465492065483
Ranking 16915/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.00584111679281
Ranking 8867/20870 scored genes
[Show Scoring Methodology]