CISH
cytokine inducible SH2 containing protein, the group of Suppressors of cytokine signaling|SH2 domain containing
Basic information
Region (hg38): 3:50606489-50611774
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (27 variants)
- not_provided (4 variants)
- CISH-related_disorder (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CISH gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145071.4. 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 | 3 | |||||
| missense | 24 | 26 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 24 | 4 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CISH | protein_coding | protein_coding | ENST00000443053 | 3 | 5342 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000539 | 0.714 | 125698 | 0 | 18 | 125716 | 0.0000716 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.889 | 147 | 181 | 0.814 | 0.0000117 | 1762 |
| Missense in Polyphen | 41 | 64.252 | 0.63811 | 628 | ||
| Synonymous | 0.800 | 63 | 71.6 | 0.880 | 0.00000431 | 599 |
| Loss of Function | 0.870 | 6 | 8.78 | 0.683 | 5.45e-7 | 87 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000243 | 0.000242 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000899 | 0.0000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000101 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. CIS is involved in the negative regulation of cytokines that signal through the JAK-STAT5 pathway such as erythropoietin, prolactin and interleukin 3 (IL3) receptor. Inhibits STAT5 trans-activation by suppressing its tyrosine phosphorylation. May be a substrate- recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). {ECO:0000250}.;
- Pathway
- Jak-STAT signaling pathway - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);JAK-STAT-Ncore;Regulation of toll-like receptor signaling pathway;MicroRNAs in cardiomyocyte hypertrophy;Leptin signaling pathway;Prolactin Signaling Pathway;Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;JAK-STAT;IL-2 Signaling Pathway;EPO Receptor Signaling;Growth hormone receptor signaling;Prolactin;Cytokine Signaling in Immune system;Post-translational protein modification;Metabolism of proteins;Immune System;IL5-mediated signaling events;growth hormone signaling pathway;Neddylation;IL2-mediated signaling events;GMCSF-mediated signaling events;IL3-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.117
Intolerance Scores
- loftool
- 0.353
- rvis_EVS
- -0.49
- rvis_percentile_EVS
- 22.36
Haploinsufficiency Scores
- pHI
- 0.473
- hipred
- Y
- hipred_score
- 0.535
- ghis
- 0.463
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.989
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cish
- Phenotype
- hematopoietic system phenotype; respiratory system phenotype; immune system phenotype; endocrine/exocrine gland phenotype;
Zebrafish Information Network
- Gene name
- cish
- Affected structure
- myeloid cell
- Phenotype tag
- abnormal
- Phenotype quality
- increased amount
Gene ontology
- Biological process
- regulation of cell growth;protein kinase C-activating G protein-coupled receptor signaling pathway;protein ubiquitination;intracellular signal transduction;interleukin-7-mediated signaling pathway;regulation of phosphatidylinositol 3-kinase activity;post-translational protein modification;negative regulation of insulin receptor signaling pathway;phosphatidylinositol phosphorylation
- Cellular component
- cellular_component;cytosol;plasma membrane;phosphatidylinositol 3-kinase complex
- Molecular function
- molecular_function;protein binding;1-phosphatidylinositol-3-kinase regulator activity