CNTNAP1 |
Gene Facts External Data Attribution
- HGNC Symbol
- CNTNAP1 (HGNC:8011) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- contactin associated protein 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- NRXN4
- Alias symbols
- p190, Caspr, CNTNAP
- %HI
- 16.64(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.42(Read more about gnomAD LOEUF score)
- Cytoband
- 17q21.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:40834549-40852011 NCBI Ensembl UCSC GRCh38/hg38: chr17:42682531-42699993 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003632.3 ENST00000264638.9 (Read more about MANE Select)
- Function
- Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells. {ECO:0000269|PubMed:24319099, ECO:0000269|PubMed:27818385, ECO:0000269|PubMed:28374019}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7545
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)