UIMC1ubiquitin interaction motif containing 1
Autism Reports / Total Reports
5 / 6Rare Variants / Common Variants
25 / 0Aliases
UIMC1, RAP80, X2HRIP110Associated Syndromes
-Chromosome Band
5q35.2Associated Disorders
-Relevance to Autism
De novo missense variants and transmitted frameshift variants in the UIMC1 gene have been observed in ASD probands in multiple studies (Iossifov et al., 2014; Yuen et al., 2017; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified UIMC1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription.
External Links
SFARI Genomic Platforms
Reports related to UIMC1 (6 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) | Yes | - |
2 | Support | Prevalence and architecture of de novo mutations in developmental disorders | et al. (2017) | No | - |
3 | Support | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) | Yes | - |
4 | Recent Recommendation | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
5 | Recent Recommendation | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders | Wang T et al. (2020) | Yes | - |
6 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (25)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.1045A>G | p.Ile349Val | missense_variant | De novo | - | - | 28135719 | et al. (2017) | |
c.1555C>T | p.Arg519Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1870C>T | p.Arg624Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1996C>T | p.Gln666Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.-8-20_-3del | - | splice_site_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.793A>G | p.Lys265Glu | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.1724A>G | p.Tyr575Cys | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.132C>T | p.Ser44%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2T>C | p.Met1? | initiator_codon_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.233-2A>G | - | splice_site_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.1870C>T | p.Arg624Ter | stop_gained | De novo | - | Simplex | 33004838 | Wang T et al. (2020) | |
c.1870C>T | p.Arg624Ter | stop_gained | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.1344_1345delinsAT | p.Gln449Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.228_232delinsTGCAT | p.Gln78Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1732del | p.His578MetfsTer35 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.61G>A | p.Asp21Asn | missense_variant | De novo | - | Multiplex | 28263302 | C Yuen RK et al. (2017) | |
c.101G>A | p.Arg34His | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.1996C>T | p.Gln666Ter | stop_gained | Familial | Paternal | Simplex | 33004838 | Wang T et al. (2020) | |
c.1891C>G | p.Gln631Glu | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.1288A>G | p.Ser430Gly | missense_variant | De novo | - | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.70del | p.Thr24LeufsTer7 | frameshift_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.954dup | p.Gly319ArgfsTer9 | frameshift_variant | Familial | Maternal | - | 33004838 | Wang T et al. (2020) | |
c.1368dup | p.Asp457Ter | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.820_826del | p.Val274IlefsTer12 | frameshift_variant | Unknown | Not paternal | - | 33004838 | Wang T et al. (2020) | |
c.954dup | p.Gly319ArgfsTer9 | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


De novo missense variants and transmitted frameshift variants in the UIMC1 gene have been observed in ASD probands in multiple studies (Iossifov et al., 2014; Yuen et al., 2017; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified UIMC1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
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
De novo missense variants and transmitted frameshift variants in the UIMC1 gene have been observed in ASD probands in multiple studies (Iossifov et al., 2014; Yuen et al., 2017; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified UIMC1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
10/1/2020

Decreased from 3 to 3
Description
De novo missense variants and transmitted frameshift variants in the UIMC1 gene have been observed in ASD probands in multiple studies (Iossifov et al., 2014; Yuen et al., 2017; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified UIMC1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
De novo missense variants and transmitted frameshift variants in the UIMC1 gene have been observed in ASD probands in multiple studies (Iossifov et al., 2014; Yuen et al., 2017; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified UIMC1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Reports Added
[New Scoring Scheme]7/1/2019

Increased from to 4
Description
De novo missense variants and transmitted frameshift variants in the UIMC1 gene have been observed in ASD probands in multiple studies (Iossifov et al., 2014; Yuen et al., 2017; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified UIMC1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Krishnan Probability Score
Score 0.44747721112294
Ranking 12322/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.032645862569223
Ranking 8970/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.73730662252529
Ranking 1436/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.24611101221161
Ranking 16311/20870 scored genes
[Show Scoring Methodology]