HIP1R
huntingtin interacting protein 1 related
Basic information
Region (hg38): 12:122834453-122862961
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (173 variants)
- not_provided (7 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HIP1R gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003959.3. 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 | 2 | |||||
| missense | 164 | 174 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 164 | 10 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HIP1R | protein_coding | protein_coding | ENST00000253083 | 32 | 28508 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.46e-15 | 0.999 | 125645 | 0 | 101 | 125746 | 0.000402 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0290 | 656 | 654 | 1.00 | 0.0000433 | 6871 |
| Missense in Polyphen | 200 | 227.55 | 0.87894 | 2429 | ||
| Synonymous | -1.12 | 315 | 291 | 1.08 | 0.0000204 | 2112 |
| Loss of Function | 3.12 | 34 | 60.1 | 0.565 | 0.00000293 | 689 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000609 | 0.000605 |
| Ashkenazi Jewish | 0.00110 | 0.00109 |
| East Asian | 0.000223 | 0.000217 |
| Finnish | 0.000362 | 0.000323 |
| European (Non-Finnish) | 0.000462 | 0.000457 |
| Middle Eastern | 0.000223 | 0.000217 |
| South Asian | 0.000496 | 0.000392 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3- phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis. {ECO:0000269|PubMed:11889126, ECO:0000269|PubMed:14732715}.;
- Pathway
- Golgi Associated Vesicle Biogenesis;Clathrin derived vesicle budding;trans-Golgi Network Vesicle Budding;Vesicle-mediated transport;Membrane Trafficking;Clathrin-mediated endocytosis
(Consensus)
Recessive Scores
- pRec
- 0.105
Intolerance Scores
- loftool
- 0.803
- rvis_EVS
- -1.05
- rvis_percentile_EVS
- 7.6
Haploinsufficiency Scores
- pHI
- 0.261
- hipred
- Y
- hipred_score
- 0.637
- ghis
- 0.577
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.753
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hip1r
- Phenotype
- skeleton phenotype; hearing/vestibular/ear phenotype; vision/eye phenotype; normal phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- receptor-mediated endocytosis;apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;actin filament organization;regulation of endocytosis;negative regulation of actin filament polymerization;positive regulation of protein binding;regulation of actin cytoskeleton organization;negative regulation of Arp2/3 complex-mediated actin nucleation;positive regulation of apoptotic process;negative regulation of apoptotic process;positive regulation of epidermal growth factor receptor signaling pathway;positive regulation of receptor-mediated endocytosis;clathrin coat assembly;protein stabilization;digestive system development;regulation of gastric acid secretion;membrane organization;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;positive regulation of clathrin coat assembly;regulation of clathrin-dependent endocytosis;positive regulation of platelet-derived growth factor receptor-beta signaling pathway
- Cellular component
- cytoplasm;mitochondrion;cytosol;postsynaptic density;apical plasma membrane;AP-2 adaptor complex;clathrin-coated vesicle;actin cortical patch;ruffle membrane;dendrite cytoplasm;neuronal cell body;dendritic spine;intracellular membrane-bounded organelle;perinuclear region of cytoplasm;synaptic membrane
- Molecular function
- protein binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;SH3 domain binding;clathrin binding;clathrin light chain binding;phosphatidylinositol binding;clathrin adaptor activity;identical protein binding;protein homodimerization activity;phosphatidylinositol-3,4-bisphosphate binding;protein heterodimerization activity;actin filament binding;phosphatidylinositol-3,5-bisphosphate binding