DIP2Cdisco interacting protein 2 homolog C
Autism Reports / Total Reports
4 / 5Rare Variants / Common Variants
10 / 0Aliases
DIP2C, KIAA0934Associated Syndromes
-Chromosome Band
10p15.3Associated Disorders
DD/NDD, IDRelevance to Autism
A de novo loss-of-function (LoF) variant in the DIP2C gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a simplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), DIP2C was determined to be an ASD candidate gene in Yuen et al., 2017.
Molecular Function
This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system.
External Links
SFARI Genomic Platforms
Reports related to DIP2C (5 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | No | - |
2 | Recent Recommendation | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) | Yes | - |
3 | Support | Autism risk in offspring can be assessed through quantification of male sperm mosaicism | Breuss MW , et al. (2019) | Yes | - |
4 | Support | - | Cerminara M et al. (2021) | Yes | DD, ID |
5 | 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.860-8C>T | - | splice_region_variant | De novo | NA | - | 35982159 | Zhou X et al. (2022) | |
c.398C>G | p.Thr133Ser | missense_variant | De novo | NA | - | 35982159 | Zhou X et al. (2022) | |
c.3706A>C | p.Met1236Leu | missense_variant | De novo | NA | - | 35982159 | Zhou X et al. (2022) | |
c.4094C>T | p.Pro1365Leu | missense_variant | De novo | NA | - | 35982159 | Zhou X et al. (2022) | |
c.4407C>T | p.Ser1469%3D | synonymous_variant | De novo | NA | - | 35982159 | Zhou X et al. (2022) | |
GA>G | p.Ser850ProfsTer10 | frameshift_variant | De novo | NA | Simplex | 31873310 | Breuss MW , et al. (2019) | |
c.757C>T | p.Arg253Trp | missense_variant | Familial | Maternal | Simplex | 33679889 | Cerminara M et al. (2021) | |
c.1969dup | p.Ala657GlyfsTer12 | frameshift_variant | De novo | NA | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.636_637dup | p.Tyr213CysfsTer39 | frameshift_variant | Familial | - | Simplex | 28263302 | C Yuen RK et al. (2017) | |
c.2208_2209dup | p.Ala737ValfsTer15 | frameshift_variant | De novo | NA | Simplex | 28263302 | C Yuen RK et al. (2017) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


A de novo loss-of-function (LoF) variant in the DIP2C gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a simplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), DIP2C was determined to be an ASD candidate gene in Yuen et al., 2017.
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.
1/1/2021

Score remained at 2
Description
A de novo loss-of-function (LoF) variant in the DIP2C gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a simplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), DIP2C was determined to be an ASD candidate gene in Yuen et al., 2017.
1/1/2020

Score remained at 2
Description
A de novo loss-of-function (LoF) variant in the DIP2C gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a simplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), DIP2C was determined to be an ASD candidate gene in Yuen et al., 2017.
10/1/2019

Score remained at 2
New Scoring Scheme
Description
A de novo loss-of-function (LoF) variant in the DIP2C gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a simplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), DIP2C was determined to be an ASD candidate gene in Yuen et al., 2017.
Reports Added
[New Scoring Scheme]4/1/2017

Increased from to 2
Description
A de novo loss-of-function (LoF) variant in the DIP2C gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a simplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), DIP2C was determined to be an ASD candidate gene in Yuen et al., 2017.
Krishnan Probability Score
Score 0.61210857642934
Ranking 180/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.9999998382774
Ranking 211/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.74109563056523
Ranking 1470/18665 scored genes
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Zhang D Score
Score 0.41891743440967
Ranking 1250/20870 scored genes
[Show Scoring Methodology]