SEMA3B
Basic information
Region (hg38): 3:50267557-50277546
Previous symbols: [ "SEMAA" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 12 | 15 | ||||
missense | 40 | 11 | 52 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 2 | 5 | 7 | |||
non coding | 3 | |||||
Total | 0 | 0 | 43 | 25 | 4 |
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 disorder • not specified | Uncertain significance (Mar 19, 2024) | ||
3-50269251-C-A | not specified | Uncertain significance (Jan 09, 2024) | ||
3-50269253-G-A | SEMA3B-related disorder | Uncertain significance (Mar 09, 2023) | ||
3-50269265-G-A | SEMA3B-related disorder • not specified | Conflicting classifications of pathogenicity (Feb 23, 2024) | ||
3-50269301-C-G | not specified | Uncertain significance (Sep 30, 2021) | ||
3-50269303-G-A | SEMA3B-related disorder | Likely benign (Jan 30, 2023) | ||
3-50269320-G-GC | SEMA3B-related disorder | Benign (Jun 17, 2021) | ||
3-50269328-C-T | SEMA3B-related disorder | Likely benign (Mar 29, 2023) | ||
3-50269329-G-A | SEMA3B-related disorder | Uncertain significance (Feb 14, 2024) | ||
3-50270172-C-T | not specified | Uncertain significance (Jan 24, 2024) | ||
3-50270208-G-A | SEMA3B-related disorder | Uncertain significance (Nov 30, 2023) | ||
3-50270214-G-A | SEMA3B-related disorder | Uncertain significance (Feb 02, 2024) | ||
3-50270230-C-T | SEMA3B-related disorder | Uncertain significance (Feb 27, 2024) | ||
3-50270231-G-A | SEMA3B-related disorder | Likely benign (Feb 16, 2022) | ||
3-50270239-T-C | SEMA3B-related disorder | Likely benign (Dec 11, 2023) | ||
3-50270261-A-G | not specified | Uncertain significance (Oct 13, 2023) | ||
3-50270263-C-T | SEMA3B-related disorder | Likely benign (Jul 13, 2021) | ||
3-50270274-G-A | SEMA3B-related disorder | Uncertain significance (Nov 21, 2023) | ||
3-50270428-G-A | SEMA3B-related disorder | Likely benign (Jun 11, 2022) | ||
3-50270444-G-A | SEMA3B-related disorder | Likely benign (Jul 13, 2021) | ||
3-50270936-C-T | not specified | Uncertain significance (Dec 08, 2023) | ||
3-50270957-C-T | SEMA3B-related disorder | Uncertain significance (Sep 08, 2022) | ||
3-50271001-C-T | SEMA3B-related disorder | Uncertain significance (May 22, 2023) | ||
3-50271009-G-C | Neurodevelopmental disorder | Uncertain significance (Jan 01, 2019) | ||
3-50271012-A-G | SEMA3B-related disorder | Likely benign (Aug 29, 2022) |
GnomAD
Source:
dbNSFP
Source:
- 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