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)