HHEX
hematopoietically expressed homeobox, the group of NKL subclass homeoboxes and pseudogenes
Basic information
Region (hg38): 10:92689955-92695647
Previous symbols: [ "PRHX" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 HHEX 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 | 14 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 0 | 1 |
Variants in HHEX
This is a list of pathogenic ClinVar variants found in the HHEX region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 10-92690003-C-G | Autosomal dominant polycystic liver disease | Uncertain significance (Sep 01, 2021) | ||
| 10-92690092-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
| 10-92690111-C-T | not specified | Uncertain significance (Feb 09, 2023) | ||
| 10-92690117-C-T | not specified | Uncertain significance (Dec 27, 2022) | ||
| 10-92690122-A-C | not specified | Uncertain significance (Sep 17, 2021) | ||
| 10-92690141-C-A | not specified | Uncertain significance (May 31, 2024) | ||
| 10-92690186-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
| 10-92690204-C-T | not specified | Uncertain significance (Aug 02, 2023) | ||
| 10-92690216-C-T | not specified | Uncertain significance (Sep 25, 2023) | ||
| 10-92692447-C-A | not specified | Uncertain significance (Jul 09, 2021) | ||
| 10-92692482-A-G | not specified | Uncertain significance (Jan 11, 2023) | ||
| 10-92694593-G-T | not specified | Uncertain significance (Jan 10, 2023) | ||
| 10-92694637-G-C | not specified | Uncertain significance (Mar 22, 2023) | ||
| 10-92694655-T-C | not specified | Uncertain significance (Mar 30, 2024) | ||
| 10-92694656-C-G | Benign (May 21, 2018) | |||
| 10-92694659-A-C | not specified | Uncertain significance (Dec 30, 2023) | ||
| 10-92694673-C-T | not specified | Uncertain significance (Dec 16, 2023) | ||
| 10-92694685-G-A | not specified | Uncertain significance (May 15, 2024) | ||
| 10-92694742-G-A | not specified | Uncertain significance (Aug 22, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HHEX | protein_coding | protein_coding | ENST00000282728 | 4 | 7459 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.543 | 0.454 | 125745 | 0 | 3 | 125748 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.36 | 93 | 138 | 0.675 | 0.00000646 | 1708 |
| Missense in Polyphen | 19 | 40.629 | 0.46764 | 477 | ||
| Synonymous | 0.508 | 58 | 63.1 | 0.919 | 0.00000323 | 547 |
| Loss of Function | 2.49 | 2 | 10.8 | 0.184 | 4.65e-7 | 124 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000616 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Recognizes the DNA sequence 5'-ATTAA-3'. Transcriptional repressor. May play a role in hematopoietic differentiation. Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity). {ECO:0000250}.;
- Pathway
- Maturity onset diabetes of the young - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Endoderm Differentiation;POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation;Developmental Biology;POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation;Transcriptional regulation of pluripotent stem cells
(Consensus)
Recessive Scores
- pRec
- 0.686
Haploinsufficiency Scores
- pHI
- 0.570
- hipred
- Y
- hipred_score
- 0.606
- ghis
- 0.555
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.977
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hhex
- Phenotype
- taste/olfaction phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; craniofacial phenotype; muscle phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; liver/biliary system phenotype; respiratory system phenotype; embryo phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- hhex
- Affected structure
- thoracic duct
- Phenotype tag
- abnormal
- Phenotype quality
- absent
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;mRNA export from nucleus;cell population proliferation;response to wounding;anterior/posterior pattern specification;negative regulation of transcription by transcription factor localization;negative regulation of transcription by competitive promoter binding;Wnt signaling pathway;negative regulation of angiogenesis;poly(A)+ mRNA export from nucleus;cell differentiation;positive regulation of Wnt signaling pathway;B cell differentiation;negative regulation of vascular endothelial growth factor receptor signaling pathway;protein localization to nucleus;response to peptide hormone;negative regulation of cyclin-dependent protein serine/threonine kinase activity;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;DNA conformation change
- Cellular component
- nucleus;cytoplasm;protein-DNA complex
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;protein binding;transcription factor binding;eukaryotic initiation factor 4E binding;DNA binding, bending;TBP-class protein binding;protein homodimerization activity;sequence-specific DNA binding;transcription regulatory region DNA binding;repressing transcription factor binding