CHAMP1
Basic information
Region (hg38): 13:114314481-114337626
Previous symbols: [ "C13orf8", "ZNF828" ]
Links
Phenotypes
GenCC
Source:
- intellectual disability, autosomal dominant 40 (Definitive), mode of inheritance: AD
- autosomal dominant non-syndromic intellectual disability (Supportive), mode of inheritance: AD
- intellectual disability, autosomal dominant 40 (Strong), mode of inheritance: AD
- complex neurodevelopmental disorder (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Craniofacial; Musculoskeletal; Neurologic | 25533962; 26340335 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (91 variants)
- Inborn genetic diseases (40 variants)
- Intellectual disability, autosomal dominant 40 (36 variants)
- CHAMP1-related syndrome (8 variants)
- CHAMP1-related condition (6 variants)
- intellectual disability with severe speech impairment (4 variants)
- not specified (3 variants)
- Intellectual disability (2 variants)
- See cases (2 variants)
- Global developmental delay (1 variants)
- Neurodevelopmental disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CHAMP1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 12 | 21 | ||||
missense | 73 | 28 | 104 | |||
nonsense | 12 | 17 | ||||
start loss | 0 | |||||
frameshift | 15 | 21 | ||||
inframe indel | 3 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 27 | 11 | 76 | 41 | 11 |
Variants in CHAMP1
This is a list of pathogenic ClinVar variants found in the CHAMP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
13-114323830-AACAG-A | CHAMP1-related disorder | Benign (Mar 28, 2019) | ||
13-114323864-C-T | Likely benign (Dec 01, 2020) | |||
13-114323879-C-T | Uncertain significance (Feb 01, 2024) | |||
13-114323880-G-A | Inborn genetic diseases • CHAMP1-related disorder | Likely benign (Sep 08, 2022) | ||
13-114323887-G-A | Benign (Apr 25, 2018) | |||
13-114323909-G-A | See cases | Uncertain significance (Dec 21, 2022) | ||
13-114323923-A-G | CHAMP1-related disorder | Likely benign (Mar 14, 2019) | ||
13-114323948-A-T | not specified | Uncertain significance (May 19, 2016) | ||
13-114323950-C-G | Uncertain significance (Nov 02, 2019) | |||
13-114324012-A-G | Intellectual disability, autosomal dominant 40 | Uncertain significance (May 06, 2019) | ||
13-114324157-T-A | CHAMP1-related disorder | Likely benign (Mar 14, 2019) | ||
13-114324185-C-T | Intellectual disability, autosomal dominant 40 | Likely pathogenic (-) | ||
13-114324194-C-T | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | ||
13-114324206-G-C | Intellectual disability, autosomal dominant 40 | Uncertain significance (-) | ||
13-114324245-C-T | Pathogenic (May 19, 2017) | |||
13-114324254-G-C | Likely benign (Jan 01, 2024) | |||
13-114324287-ACTC-A | Likely benign (Dec 01, 2023) | |||
13-114324317-C-T | Intellectual disability, autosomal dominant 40 | Uncertain significance (Oct 30, 2019) | ||
13-114324318-C-T | CHAMP1-related disorder | Uncertain significance (Oct 06, 2023) | ||
13-114324326-G-T | Inborn genetic diseases | Likely benign (Nov 01, 2022) | ||
13-114324332-T-C | Uncertain significance (May 05, 2022) | |||
13-114324333-C-T | Intellectual disability, autosomal dominant 40 | Uncertain significance (Mar 02, 2021) | ||
13-114324336-C-T | Benign (Dec 20, 2017) | |||
13-114324358-T-A | CHAMP1-related disorder | Likely benign (May 23, 2019) | ||
13-114324359-TCTC-T | CHAMP1-related disorder | Benign/Likely benign (Feb 01, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CHAMP1 | protein_coding | protein_coding | ENST00000361283 | 1 | 12809 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.992 | 0.00803 | 125721 | 0 | 2 | 125723 | 0.00000795 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.140 | 420 | 428 | 0.981 | 0.0000225 | 5243 |
Missense in Polyphen | 97 | 159.83 | 0.60688 | 2090 | ||
Synonymous | -1.49 | 174 | 151 | 1.15 | 0.00000742 | 1682 |
Loss of Function | 4.08 | 2 | 23.2 | 0.0860 | 0.00000118 | 336 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000880 | 0.00000879 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore. {ECO:0000269|PubMed:21063390}.;
- Disease
- DISEASE: Mental retardation, autosomal dominant 40 (MRD40) [MIM:616579]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:25533962, ECO:0000269|PubMed:26340335}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.175
Intolerance Scores
- loftool
- rvis_EVS
- -0.75
- rvis_percentile_EVS
- 13.71
Haploinsufficiency Scores
- pHI
- 0.127
- hipred
- N
- hipred_score
- 0.387
- ghis
- 0.587
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Champ1
- Phenotype
Gene ontology
- Biological process
- sister chromatid biorientation;protein localization to kinetochore;protein localization to microtubule;attachment of mitotic spindle microtubules to kinetochore
- Cellular component
- condensed chromosome kinetochore;condensed chromosome;nucleus;nucleoplasm;cytoplasm;spindle;Flemming body
- Molecular function
- nucleic acid binding;protein binding;metal ion binding