GIP
Basic information
Region (hg38): 17:48958554-48968596
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 GIP 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 | 7 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 7 | 0 | 0 |
Variants in GIP
This is a list of pathogenic ClinVar variants found in the GIP region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-48960890-G-C | not specified | Uncertain significance (Feb 28, 2023) | ||
17-48960895-C-T | not specified | Uncertain significance (Aug 20, 2024) | ||
17-48961756-C-A | not specified | Uncertain significance (Dec 27, 2023) | ||
17-48964323-C-G | not specified | Uncertain significance (Jan 03, 2024) | ||
17-48964335-G-C | not specified | Uncertain significance (Aug 20, 2024) | ||
17-48964337-A-G | not specified | Uncertain significance (Dec 13, 2022) | ||
17-48964379-A-G | not specified | Uncertain significance (Dec 10, 2024) | ||
17-48964392-T-A | not specified | Uncertain significance (Aug 01, 2022) | ||
17-48964419-G-C | not specified | Uncertain significance (Nov 03, 2023) | ||
17-48967184-C-T | not specified | Uncertain significance (Nov 11, 2024) | ||
17-48967210-G-A | not specified | Uncertain significance (Oct 03, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GIP | protein_coding | protein_coding | ENST00000357424 | 5 | 10043 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.271 | 0.707 | 125734 | 0 | 7 | 125741 | 0.0000278 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.00966 | 81 | 80.8 | 1.00 | 0.00000409 | 985 |
Missense in Polyphen | 24 | 23.26 | 1.0318 | 305 | ||
Synonymous | -0.307 | 36 | 33.7 | 1.07 | 0.00000175 | 303 |
Loss of Function | 1.93 | 2 | 7.81 | 0.256 | 3.76e-7 | 88 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.0000994 | 0.0000992 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000447 | 0.0000440 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Potent stimulator of insulin secretion and relatively poor inhibitor of gastric acid secretion.;
- Pathway
- Insulin secretion - Homo sapiens (human);Incretin synthesis, secretion, and inactivation;Signaling by GPCR;Signal Transduction;Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);Incretin synthesis, secretion, and inactivation;Peptide hormone metabolism;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;G alpha (s) signalling events;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.285
Intolerance Scores
- loftool
- 0.416
- rvis_EVS
- 0.53
- rvis_percentile_EVS
- 80.73
Haploinsufficiency Scores
- pHI
- 0.0938
- hipred
- N
- hipred_score
- 0.123
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.373
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gip
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- signal transduction;G protein-coupled receptor signaling pathway;female pregnancy;memory;adult locomotory behavior;response to glucose;response to selenium ion;response to acidic pH;regulation of signaling receptor activity;positive regulation of glucose transmembrane transport;response to organic cyclic compound;sensory perception of pain;endocrine pancreas development;positive regulation of insulin secretion;response to lipid;exploration behavior;regulation of fatty acid biosynthetic process;response to drug;response to starvation;response to amino acid;response to peptide hormone;positive regulation of cAMP-mediated signaling;response to axon injury;regulation of insulin secretion;digestive system development;long-term synaptic potentiation;positive regulation of glucagon secretion;triglyceride homeostasis
- Cellular component
- extracellular region;extracellular space;endoplasmic reticulum lumen;secretory granule lumen;neuronal cell body
- Molecular function
- hormone activity;protein binding