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CA5BP1-CA5B

Chr X

CA5BP1-CA5B readthrough

NCBI Gene: 114004397

This locus represents naturally occurring readthrough transcription between neighboring genes on chromosome X but is not predicted to produce a functional protein product. No disease associations have been established for this readthrough transcript, as it does not encode a protein with known clinical significance.

ResearchSummary from RefSeq

This locus represents naturally occurring readthrough transcription between the neighboring carbonic anhydrase 5B pseudogene 1 and carbonic anhydrase 5B genes on chromosome X. The readthrough transcription is not predicted to produce a protein product. [provided by RefSeq, Jan 2019]

ResearchGenerating clinical summary…

Clinical Summary— CA5BP1-CA5B

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ClinVar Variants

40 VUS of 95 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/CA5BP1-CA5B?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

95 submitted variants in ClinVar

ClinVar

Classification Summary

VUS40

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	0	40	40
Likely Benign	1	1	2
Benign	0	0	0
Total	1	41	42

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

4 pathogenic / likely-pathogenic (of 5) ClinVar copy-number / structural variants overlap CA5BP1-CA5B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →