CRYZL2P-SEC16B

protein-coding

CRYZL2P-SEC16B readthrough

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring CRYZL2P (crystallin zeta like 2 pseudogene) and SEC16B (SEC16 homolog B, endoplasmic reticulum export factor) genes on chromosome 1. The readthrough transcript encodes a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Oct 2017]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:1

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr1:177,928,788-178,038,007

External References & Databases

Ensembl (ENSG00000254154)

NCBI Gene (111240474)

HGNC:53757

GenCC

ClinVar (CRYZL2P-SEC16B)

Transcript & Mutation Effects

hg38 • Region Span ~109.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CRYZL2P-SEC16B variants in ClinVar

2 Conditions Cataloged

Inborn genetic diseasesTotal: 50

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	1	0	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001356505.2	RefSeq	NP_001343434.1	25	Standard
NM_001356506.2	RefSeq	NP_001343435.1	25	Standard

dbNSFP Gene Annotations

Source: dbNSFP