SLA
Basic information
Region (hg38): 8:133036728-133102912
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (65 variants)
- not_specified (39 variants)
- Inborn_genetic_diseases (21 variants)
- Iodotyrosyl_coupling_defect (11 variants)
- TG-related_disorder (2 variants)
- Autoimmune_thyroid_disease,_susceptibility_to,_3 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLA gene is commonly pathogenic or not. These statistics are base on transcript: NM_001045556.3. Only rare variants are included in the table.
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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 1 | |||||
missense | 28 | 30 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 28 | 3 | 0 |
Highest pathogenic variant AF is 0.0000712454
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLA | protein_coding | protein_coding | ENST00000427060 | 7 | 66326 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.343 | 0.656 | 125735 | 0 | 8 | 125743 | 0.0000318 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.876 | 150 | 183 | 0.818 | 0.0000103 | 2026 |
Missense in Polyphen | 59 | 90.77 | 0.64999 | 994 | ||
Synonymous | 0.158 | 76 | 77.8 | 0.977 | 0.00000477 | 646 |
Loss of Function | 2.98 | 4 | 17.5 | 0.229 | 0.00000103 | 175 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000598 | 0.0000598 |
Ashkenazi Jewish | 0.000198 | 0.000198 |
East Asian | 0.000115 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.000115 | 0.000109 |
South Asian | 0.0000654 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. Involved in the negative regulation of positive selection and mitosis of T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins. {ECO:0000269|PubMed:10449770, ECO:0000269|PubMed:11696592}.;
- Pathway
- TCR;PDGFR-beta signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.329
Intolerance Scores
- loftool
- 0.168
- rvis_EVS
- -0.09
- rvis_percentile_EVS
- 46.74
Haploinsufficiency Scores
- pHI
- 0.642
- hipred
- Y
- hipred_score
- 0.776
- ghis
- 0.550
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.866
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sla
- Phenotype
- cellular phenotype; immune system phenotype; hematopoietic system phenotype;
Gene ontology
- Biological process
- positive regulation of signal transduction;cell differentiation;peptidyl-tyrosine autophosphorylation;regulation of cell population proliferation
- Cellular component
- endosome
- Molecular function
- non-membrane spanning protein tyrosine kinase activity;SH3/SH2 adaptor activity;protein binding