Home > Gene Browser > CYP3A7-CYP3A51P

CYP3A7-CYP3A51P

Synonyms
CYP3A7, CYP3A7-3AP1, CYP3A7-CYP3AP1, CYP3A7.1L, CYPIIIA7
External resources
Summary
This locus represents readthrough transcription between the neighboring CYP3A7 (cytochrome P450, family 3, subfamily A, polypeptide 7) and CYP3A51P (cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene) genes, which are members of the CYP3A gene cluster on chromosome 7. The downstream pseudogene is not known to be independently transcribed. The readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of the pseudogene. It encodes a CYP3A isoform with a novel C-terminus. This isoform is only expressed in alleles containing a T nucleotide at the -6 position of a splice acceptor in the pseudogene, which enables correct splicing of the upstream CYP3A7 exons to the pseudogene exons. It should be noted that the reference genome sequence represents the CYP3A7_39256 T->A allele, and thus this haplotype is unlikely to produce the readthrough transcript.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
19
Likely pathogenic
0
VUS
6,778
Likely benign
3,020
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on CYP3A7-CYP3A51P gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.4%
Abnormality of the cardiovascular system
31.6%
Abnormality of head or neck
26.3%
Abnormality of the musculoskeletal system
26.3%
Abnormality of the ear
21.1%
Growth abnormality
15.8%
Abnormality of the genitourinary system
10.5%
Abnormality of the eye
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive 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%
Constitutional symptom
0%
Neoplasm
0%

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