IGHV7-81

immunoglobulin heavy variable 7-81 (non-functional), the group of Immunoglobulin heavy locus at 14q32.33

Basic information

Region (hg38): 14:106874583-106875071

Links

ENSG00000211979

∙ NCBI:28378 ∙ ∙ HGNC:5669 ∙ Uniprot:A0A0B4J1V7 ∙ 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 IGHV7-81 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGHV7-81 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway: Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Signaling by the B Cell Receptor (BCR);FCGR activation;Role of phospholipids in phagocytosis;Fcgamma receptor (FCGR) dependent phagocytosis;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Fc epsilon receptor (FCERI) signaling;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;CD22 mediated BCR regulation;Initial triggering of complement;Classical antibody-mediated complement activation;Cell surface interactions at the vascular wall;Hemostasis;Regulation of actin dynamics for phagocytic cup formation;Regulation of Complement cascade;Creation of C4 and C2 activators;Complement cascade;FCERI mediated NF-kB activation;Role of LAT2/NTAL/LAB on calcium mobilization (Consensus)

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis: 0.394

Gene ontology

Biological process: phagocytosis, recognition;phagocytosis, engulfment;complement activation, classical pathway;defense response to bacterium;innate immune response;B cell receptor signaling pathway;positive regulation of B cell activation
Cellular component: external side of plasma membrane;immunoglobulin complex, circulating
Molecular function: antigen binding;immunoglobulin receptor binding