IQCJ-SCHIP1

IQCJ-SCHIP1 readthrough

Basic information

Region (hg38): 3:158962234-159897629

Links

ENSG00000283154 ∙ NCBI:100505385 ∙ ∙ HGNC:38842 ∙ Uniprot:B3KU38 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IQCJ-SCHIP1 gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCJ-SCHIP1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in IQCJ-SCHIP1

This is a list of pathogenic ClinVar variants found in the IQCJ-SCHIP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-159245843-G-A		not specified	Uncertain significance (Sep 27, 2022)
3-159245856-G-A		not specified	Uncertain significance (Feb 17, 2022)
3-159252746-G-C		not specified	Uncertain significance (Apr 17, 2023)
3-159252782-C-G		not specified	Uncertain significance (Dec 06, 2021)
3-159262565-G-A		not specified	Uncertain significance (Oct 06, 2022)
3-159262579-C-T		not specified	Uncertain significance (Mar 11, 2022)
3-159262580-G-A		not specified	Uncertain significance (Jan 09, 2024)
3-159262607-C-T		not specified	Uncertain significance (Dec 17, 2023)
3-159265278-G-A		not specified	Uncertain significance (May 04, 2023)
3-159265322-C-G		not specified	Uncertain significance (Aug 23, 2021)
3-159764479-G-T		not specified	Uncertain significance (Jun 24, 2022)
3-159764549-A-G		not specified	Uncertain significance (May 26, 2022)
3-159764552-G-C		not specified	Uncertain significance (Nov 22, 2021)
3-159764623-C-T		not specified	Uncertain significance (Jul 26, 2021)
3-159764627-T-G		not specified	Uncertain significance (Dec 20, 2023)
3-159764645-T-C		not specified	Uncertain significance (Jan 08, 2024)
3-159764647-G-A		not specified	Uncertain significance (Apr 07, 2023)
3-159764666-A-T		not specified	Uncertain significance (Dec 04, 2023)
3-159764686-G-A		not specified	Uncertain significance (Dec 20, 2022)
3-159764788-A-G		not specified	Uncertain significance (Jul 09, 2021)
3-159764809-C-T		not specified	Uncertain significance (Jul 05, 2023)
3-159764810-C-T		not specified	Uncertain significance (Jun 29, 2023)
3-159764875-G-A		not specified	Uncertain significance (Nov 17, 2022)
3-159764896-A-G		not specified	Uncertain significance (Jul 06, 2021)
3-159764914-C-T		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

dbNSFP

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.499

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqschfp

Gene ontology

• Biological process: negative regulation of cytoskeleton organization
• Cellular component: cytoplasm;axon initial segment
• Molecular function: protein binding