Home > Gene Browser > CNTNAP1
CNTNAP1
- Synonyms
- CASPR, CHN3, CNTNAP, NRXN4, P190
- External resources
- NCBI8506
- OMIM602346
- EnsemblENSG00000108797
- HGNCHGNC:8011
- Summary
- The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 10
- Likely pathogenic
- 0
- VUS
- 5,816
- Likely benign
- 1,724
- Benign
- 275
Patient phenotypes
Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on CNTNAP1 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the eye
- 60%
- Abnormality of head or neck
- 50%
- Abnormality of the musculoskeletal system
- 50%
- Abnormality of the nervous system
- 40%
- Abnormality of the ear
- 30%
- Abnormality of the integument
- 20%
- Growth abnormality
- 20%
- Abnormality of limbs
- 10%
- Abnormality of the digestive system
- 10%
- Abnormality of the genitourinary system
- 10%
- Constitutional symptom
- 10%
- Abnormal cellular phenotype
- 0%
- Abnormality of blood and blood-forming tissues
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the cardiovascular system
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Neoplasm
- 0%
Have a question or need assistance? Ask here.
Send us your questions or comments related to the variant counts and/or patient phenotypes