HABP4
Basic information
Region (hg38): 9:96450168-96491336
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 HABP4 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 | 24 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 24 | 2 | 0 |
Variants in HABP4
This is a list of pathogenic ClinVar variants found in the HABP4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-96450376-G-T | not specified | Uncertain significance (Oct 20, 2023) | ||
9-96450533-C-T | not specified | Uncertain significance (Oct 17, 2023) | ||
9-96450578-C-A | not specified | Uncertain significance (May 17, 2023) | ||
9-96458391-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
9-96458414-G-A | not specified | Uncertain significance (Aug 12, 2021) | ||
9-96458460-A-C | not specified | Uncertain significance (Mar 20, 2024) | ||
9-96458462-C-T | not specified | Uncertain significance (Oct 31, 2023) | ||
9-96458524-G-T | not specified | Uncertain significance (Apr 24, 2024) | ||
9-96465339-C-T | not specified | Uncertain significance (Nov 29, 2023) | ||
9-96465387-C-T | not specified | Uncertain significance (Feb 13, 2024) | ||
9-96465396-G-T | not specified | Uncertain significance (Jul 20, 2021) | ||
9-96465404-G-A | not specified | Likely benign (Sep 16, 2021) | ||
9-96465443-G-A | not specified | Uncertain significance (Apr 12, 2024) | ||
9-96465494-A-G | not specified | Uncertain significance (Oct 03, 2022) | ||
9-96465728-C-A | not specified | Uncertain significance (Mar 23, 2023) | ||
9-96465733-T-C | not specified | Uncertain significance (Dec 17, 2023) | ||
9-96465760-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
9-96465763-C-T | not specified | Uncertain significance (Mar 29, 2022) | ||
9-96471031-C-T | not specified | Likely benign (Oct 06, 2021) | ||
9-96471058-A-C | not specified | Uncertain significance (Mar 22, 2023) | ||
9-96471066-G-A | not specified | Uncertain significance (Jan 26, 2022) | ||
9-96484553-C-A | not specified | Uncertain significance (Nov 02, 2023) | ||
9-96488102-A-C | not specified | Uncertain significance (Aug 23, 2021) | ||
9-96488105-A-G | not specified | Uncertain significance (Dec 16, 2023) | ||
9-96488113-G-A | not specified | Uncertain significance (Oct 12, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
HABP4 | protein_coding | protein_coding | ENST00000375249 | 8 | 41136 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00621 | 0.990 | 125717 | 0 | 31 | 125748 | 0.000123 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.13 | 168 | 214 | 0.784 | 0.0000127 | 2657 |
Missense in Polyphen | 40 | 58.508 | 0.68367 | 654 | ||
Synonymous | 1.30 | 63 | 77.6 | 0.812 | 0.00000451 | 830 |
Loss of Function | 2.53 | 7 | 18.9 | 0.371 | 0.00000110 | 228 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000868 | 0.0000868 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000816 | 0.000816 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000704 | 0.0000703 |
Middle Eastern | 0.000816 | 0.000816 |
South Asian | 0.000163 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation (PubMed:14699138, PubMed:16455055, PubMed:19523114, PubMed:21771594). Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation (PubMed:19523114). Binds (via C-terminus) to poly(U) RNA (PubMed:19523114). Involved in mRNA translation regulation, probably at the initiation step (PubMed:21771594). {ECO:0000250|UniProtKB:A1L1K8, ECO:0000269|PubMed:14699138, ECO:0000269|PubMed:16455055, ECO:0000269|PubMed:19523114, ECO:0000269|PubMed:21771594}.;
- Pathway
- Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis
(Consensus)
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- loftool
- 0.593
- rvis_EVS
- -0.56
- rvis_percentile_EVS
- 19.31
Haploinsufficiency Scores
- pHI
- 0.184
- hipred
- Y
- hipred_score
- 0.573
- ghis
- 0.628
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.759
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Habp4
- Phenotype
Gene ontology
- Biological process
- platelet degranulation;mRNA processing;RNA splicing;positive regulation of RNA splicing;negative regulation of DNA binding;positive regulation of translational initiation;cellular response to mechanical stimulus
- Cellular component
- extracellular region;nucleus;nucleolus;cytoplasm;cytosol;cytoplasmic stress granule;Cajal body;sarcoplasm;nuclear speck;sarcomere;Gemini of coiled bodies
- Molecular function
- RNA binding;protein binding