IQCJ-SCHIP1

protein-coding

IQCJ-SCHIP1 readthrough

Gene summary

This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1U:25

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr3:158,962,235-159,897,358

External References & Databases

Ensembl (ENSG00000283154)

NCBI Gene (100505385)

ClinVar (IQCJ-SCHIP1)

Transcript & Mutation Effects

hg38 • Region Span ~935.1 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 IQCJ-SCHIP1 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

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			25 clinvar			25
nonsense		1 clinvar				1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	25	0	0	26

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001197113.2	RefSeq	NP_001184042.1	11	Standard
NM_001197114.2	RefSeq	NP_001184043.1	10	Standard
NM_001414413.1	RefSeq	NP_001401342.1	10	Standard
NM_001414414.1	RefSeq	NP_001401343.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of cytoskeleton organization

Molecular Function

protein binding

Cellular Component

cytoplasm
axon initial segment

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments (PubMed:25950943). May also play a role in axon outgrowth and guidance (By similarity). {ECO:0000250|UniProtKB:A0A088MLT8, ECO:0000269|PubMed:25950943}.;

Intolerance Scores

RVIS EVS: 0.06
RVIS percentile EVS: 58.53

Essentials

Essential (CRISPR): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium