PTPN7
Basic information
Region (hg38): 1:202147012-202161588
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 PTPN7 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 | 20 | 20 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 5 | |||||
Total | 0 | 0 | 25 | 0 | 0 |
Variants in PTPN7
This is a list of pathogenic ClinVar variants found in the PTPN7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-202150356-C-T | not specified | Uncertain significance (Jan 27, 2022) | ||
1-202150386-C-T | not specified | Uncertain significance (Mar 17, 2023) | ||
1-202152556-G-C | not specified | Uncertain significance (Nov 21, 2022) | ||
1-202152611-C-T | not specified | Uncertain significance (Feb 10, 2023) | ||
1-202152612-G-A | not specified | Uncertain significance (Oct 05, 2021) | ||
1-202153732-G-T | not specified | Uncertain significance (May 30, 2024) | ||
1-202153741-C-T | not specified | Uncertain significance (Jul 13, 2021) | ||
1-202153780-C-T | not specified | Uncertain significance (Dec 13, 2022) | ||
1-202153795-C-T | not specified | Uncertain significance (Jul 11, 2022) | ||
1-202153828-A-C | not specified | Uncertain significance (Jan 22, 2024) | ||
1-202154199-C-T | not specified | Uncertain significance (Oct 12, 2022) | ||
1-202154262-G-A | not specified | Uncertain significance (Nov 08, 2022) | ||
1-202155552-A-T | not specified | Uncertain significance (Jun 03, 2022) | ||
1-202155597-C-T | not specified | Uncertain significance (Mar 24, 2023) | ||
1-202157772-C-T | not specified | Uncertain significance (Nov 09, 2021) | ||
1-202158169-C-A | not specified | Uncertain significance (Oct 17, 2023) | ||
1-202158252-C-T | not specified | Uncertain significance (Mar 28, 2023) | ||
1-202158271-G-C | not specified | Uncertain significance (Mar 15, 2024) | ||
1-202159348-C-T | not specified | Uncertain significance (May 04, 2023) | ||
1-202159365-G-A | not specified | Likely benign (Mar 29, 2024) | ||
1-202159384-C-A | not specified | Uncertain significance (Jan 29, 2024) | ||
1-202159409-G-T | not specified | Uncertain significance (Aug 28, 2023) | ||
1-202159423-C-T | not specified | Uncertain significance (Apr 25, 2023) | ||
1-202160596-T-C | not specified | Uncertain significance (Dec 01, 2022) | ||
1-202160599-G-T | not specified | Uncertain significance (Dec 21, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PTPN7 | protein_coding | protein_coding | ENST00000309017 | 10 | 14576 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
9.41e-14 | 0.252 | 125666 | 0 | 82 | 125748 | 0.000326 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.20 | 229 | 286 | 0.800 | 0.0000173 | 2969 |
Missense in Polyphen | 82 | 107.33 | 0.764 | 1143 | ||
Synonymous | 0.540 | 107 | 114 | 0.936 | 0.00000692 | 950 |
Loss of Function | 1.14 | 24 | 30.9 | 0.778 | 0.00000180 | 280 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000183 | 0.000181 |
Ashkenazi Jewish | 0.000100 | 0.0000992 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.000188 | 0.000185 |
European (Non-Finnish) | 0.000553 | 0.000545 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.000229 | 0.000229 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the regulation of T and B-lymphocyte development and signal transduction. {ECO:0000269|PubMed:10206983, ECO:0000269|PubMed:10559944, ECO:0000269|PubMed:10702794, ECO:0000269|PubMed:1510684, ECO:0000269|PubMed:1530918, ECO:0000269|PubMed:9624114}.;
- Pathway
- MAPK signaling pathway - Homo sapiens (human);MAPK Signaling Pathway;t cell receptor signaling pathway;Ras signaling in the CD4+ TCR pathway;Downstream signaling in naïve CD8+ T cells
(Consensus)
Recessive Scores
- pRec
- 0.150
Intolerance Scores
- loftool
- 0.466
- rvis_EVS
- 0.0000761
- rvis_percentile_EVS
- 53.98
Haploinsufficiency Scores
- pHI
- 0.246
- hipred
- Y
- hipred_score
- 0.558
- ghis
- 0.530
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.939
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | High | Medium | High |
Mouse Genome Informatics
- Gene name
- Ptpn7
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- protein dephosphorylation;peptidyl-tyrosine dephosphorylation;cellular response to cytokine stimulus
- Cellular component
- nucleoplasm;cytoplasm;cytosol;cytoskeleton;cytoplasmic side of plasma membrane
- Molecular function
- protein tyrosine phosphatase activity;protein binding