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SEMA3B

semaphorin 3B, the group of Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes

Basic information

Region (hg38): 3:50267557-50277546

Previous symbols: [ "SEMAA" ]

Links

ENSG00000012171NCBI:7869OMIM:601281HGNC:10724Uniprot:Q13214AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SEMA3B gene.

  • SEMA3B-related condition (16 variants)
  • Inborn genetic diseases (11 variants)
  • not provided (1 variants)
  • Neurodevelopmental disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEMA3B 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
1
clinvar
1
missense
22
clinvar
1
clinvar
23
nonsense
0
start loss
0
frameshift
1
clinvar
1
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
1
clinvar
1
Total 0 0 24 1 1

Variants in SEMA3B

This is a list of pathogenic ClinVar variants found in the SEMA3B region.

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

Position Type Phenotype Significance ClinVar
3-50269247-C-T SEMA3B-related condition Uncertain significance (Oct 12, 2023)2634776
3-50269251-C-A not specified Uncertain significance (Jan 09, 2024)3159699
3-50269253-G-A SEMA3B-related condition Uncertain significance (Mar 09, 2023)2628646
3-50269265-G-A SEMA3B-related condition • not specified Conflicting classifications of pathogenicity (Feb 23, 2024)2357294
3-50269301-C-G not specified Uncertain significance (Sep 30, 2021)2229215
3-50269303-G-A SEMA3B-related condition Likely benign (Jan 30, 2023)3045424
3-50269320-G-GC SEMA3B-related condition Benign (Jun 17, 2021)3060238
3-50269328-C-T SEMA3B-related condition Likely benign (Mar 29, 2023)3030967
3-50269329-G-A SEMA3B-related condition Uncertain significance (Feb 14, 2024)3029728
3-50270172-C-T not specified Uncertain significance (Jan 24, 2024)3159701
3-50270208-G-A SEMA3B-related condition Uncertain significance (Nov 30, 2023)3054707
3-50270214-G-A SEMA3B-related condition Uncertain significance (Feb 02, 2024)2632087
3-50270230-C-T SEMA3B-related condition Uncertain significance (Feb 27, 2024)3054981
3-50270231-G-A SEMA3B-related condition Likely benign (Feb 16, 2022)3031785
3-50270239-T-C SEMA3B-related condition Likely benign (Dec 11, 2023)3051968
3-50270261-A-G not specified Uncertain significance (Oct 13, 2023)3159704
3-50270263-C-T SEMA3B-related condition Likely benign (Jul 13, 2021)3030115
3-50270274-G-A SEMA3B-related condition Uncertain significance (Nov 21, 2023)3056751
3-50270428-G-A SEMA3B-related condition Likely benign (Jun 11, 2022)3054026
3-50270444-G-A SEMA3B-related condition Likely benign (Jul 13, 2021)3048220
3-50270936-C-T not specified Uncertain significance (Dec 08, 2023)3159705
3-50270957-C-T SEMA3B-related condition Uncertain significance (Sep 08, 2022)2634321
3-50271001-C-T SEMA3B-related condition Uncertain significance (May 22, 2023)2634726
3-50271009-G-C Neurodevelopmental disorder Uncertain significance (Jan 01, 2019)982946
3-50271012-A-G SEMA3B-related condition Likely benign (Aug 29, 2022)3056699

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. {ECO:0000250}.;
Pathway
Axon guidance - Homo sapiens (human);Vitamin D Receptor Pathway (Consensus)

Recessive Scores

pRec
0.147

Haploinsufficiency Scores

pHI
0.378
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.288

Mouse Genome Informatics

Gene name
Sema3b
Phenotype
nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); normal phenotype;

Gene ontology

Biological process
neural crest cell migration;cell-cell signaling;axon guidance;positive regulation of cell migration;negative regulation of axon extension involved in axon guidance;negative chemotaxis;chemorepulsion of axon;semaphorin-plexin signaling pathway
Cellular component
extracellular space;endoplasmic reticulum;integral component of plasma membrane
Molecular function
semaphorin receptor binding;neuropilin binding;chemorepellent activity