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CHAMP1 |
Gene Facts External Data Attribution
- HGNC Symbol
- CHAMP1 (HGNC:20311) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- chromosome alignment maintaining phosphoprotein 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C13orf8, ZNF828
- Alias symbols
- CAMP, CHAMP
- %HI
- 52.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.16(Read more about gnomAD LOEUF score)
- Cytoband
- 13q34
- Genomic Coordinates
-
GRCh37/hg19: chr13:115079978-115092797 NCBI Ensembl UCSC GRCh38/hg38: chr13:114314503-114327322 NCBI Ensembl UCSC - MANE Select Transcript
- NM_032436.4 ENST00000361283.4 (Read more about MANE Select)
- 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}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-8867
ClinGen Curation ID:
CCID:006849
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000013.10)
(NC_000013.11)
