HAUS6
gene geneOn this page
Also known as FLJ20060KIAA1574dgt6
Summary
HAUS6 (HAUS augmin like complex subunit 6, HGNC:25948) is a protein-coding gene on chromosome 9p22.1, encoding HAUS augmin-like complex subunit 6 (Q7Z4H7). Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. It is a common-essential gene (DepMap: required in 99.1% of cancer cell lines).
The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms.
Source: NCBI Gene 54801 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 179 total
- Cancer dependency (DepMap): dependent in 99.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_017645
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25948 |
| Approved symbol | HAUS6 |
| Name | HAUS augmin like complex subunit 6 |
| Location | 9p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20060, KIAA1574, dgt6 |
| Ensembl gene | ENSG00000147874 |
| Ensembl biotype | protein_coding |
| OMIM | 613433 |
| Entrez | 54801 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000380496, ENST00000380502, ENST00000415524, ENST00000888738, ENST00000888739, ENST00000888740, ENST00000888741
RefSeq mRNA: 2 — MANE Select: NM_017645
NM_001270890, NM_017645
CCDS: CCDS6489
Canonical transcript exons
ENST00000380502 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001023228 | 19080479 | 19080672 |
| ENSE00001023231 | 19076602 | 19076704 |
| ENSE00001023233 | 19060088 | 19060223 |
| ENSE00001132325 | 19070219 | 19070300 |
| ENSE00001132337 | 19078176 | 19078302 |
| ENSE00001187310 | 19057961 | 19059001 |
| ENSE00001619498 | 19086734 | 19086782 |
| ENSE00001626477 | 19087091 | 19087156 |
| ENSE00001651449 | 19094317 | 19094395 |
| ENSE00001690707 | 19096674 | 19096769 |
| ENSE00001701954 | 19093171 | 19093303 |
| ENSE00001719386 | 19082873 | 19083043 |
| ENSE00001798413 | 19089412 | 19089559 |
| ENSE00001826036 | 19102524 | 19102904 |
| ENSE00001927739 | 19053141 | 19056404 |
| ENSE00003533905 | 19063008 | 19063193 |
| ENSE00003634628 | 19063514 | 19063580 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 89.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.0957 / max 86.9215, expressed in 1780 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 100147 | 11.5851 | 1780 |
| 100146 | 0.4958 | 299 |
| 100145 | 0.0083 | 3 |
| 100148 | 0.0066 | 4 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 89.77 | gold quality |
| ventricular zone | UBERON:0003053 | 89.74 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 89.16 | gold quality |
| endothelial cell | CL:0000115 | 88.02 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.38 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.37 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 86.94 | gold quality |
| parietal pleura | UBERON:0002400 | 85.65 | gold quality |
| visceral pleura | UBERON:0002401 | 83.06 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.81 | gold quality |
| adrenal tissue | UBERON:0018303 | 82.68 | gold quality |
| right testis | UBERON:0004534 | 82.59 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 82.57 | gold quality |
| medial globus pallidus | UBERON:0002477 | 82.56 | gold quality |
| testis | UBERON:0000473 | 82.52 | gold quality |
| cortical plate | UBERON:0005343 | 82.08 | gold quality |
| left testis | UBERON:0004533 | 81.56 | gold quality |
| tendon | UBERON:0000043 | 81.39 | gold quality |
| tibia | UBERON:0000979 | 81.35 | gold quality |
| skin of hip | UBERON:0001554 | 80.74 | gold quality |
| stromal cell of endometrium | CL:0002255 | 80.46 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.42 | gold quality |
| tibialis anterior | UBERON:0001385 | 80.32 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 80.26 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 80.18 | gold quality |
| endometrium | UBERON:0001295 | 79.76 | gold quality |
| primary visual cortex | UBERON:0002436 | 79.62 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 79.43 | gold quality |
| leukocyte | CL:0000738 | 79.38 | gold quality |
| monocyte | CL:0000576 | 79.22 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.00 |
| E-MTAB-4850 | no | 753.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
107 targeting HAUS6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.1% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 5)
- Results suggest that an important mitotic function for gamma-tubulin may lie within the spindle, where augmin (Dgt2-6; FAM29A) and gamma-tubulin function cooperatively to amplify the number of microtubules. (PMID:18443220)
- FAM29A promotes microtubule amplification via recruitment of the NEDD1-gamma-tubulin complex to the mitotic spindle. (PMID:19029337)
- Hice1 and hDgt6 are core components of distinct augmin sub-complexes. (PMID:25173975)
- Our work shows that noncentrosomal microtubules nucleation is the predominant source of spindle microtubules also in human somatic cells. Importantly, our analysis of HAUS6-depleted cells shows that the Augmin complex is responsible for this activity. (PMID:31113824)
- Bioinformatics analysis and validation of HAUS6 as a key prognostic gene in squamous cell carcinoma of the tongue. (PMID:38759391)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | haus6 | ENSDARG00000101652 |
| mus_musculus | Haus6 | ENSMUSG00000038047 |
| rattus_norvegicus | Haus6 | ENSRNOG00000046028 |
| drosophila_melanogaster | dgt6 | FBGN0039638 |
Protein
Protein identifiers
HAUS augmin-like complex subunit 6 — Q7Z4H7 (reviewed: Q7Z4H7)
All UniProt accessions (3): Q7Z4H7, Q5SYF9, Q5VY60
UniProt curated annotations — full annotation on UniProt →
Function. Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Promotes the nucleation of microtubules from the spindle through recruitment of NEDD1 and gamma-tubulin.
Subunit / interactions. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Interacts with PLK1, NEDD1 and gamma-tubulin. Interacts with EML3 (phosphorylated at ‘Thr-881’).
Subcellular location. Cytoplasm. Cytoskeleton. Spindle. Microtubule organizing center. Centrosome.
Post-translational modifications. Phosphorylated during mitosis.
Similarity. Belongs to the HAUS6 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z4H7-1 | 1 | yes |
| Q7Z4H7-2 | 2 | |
| Q7Z4H7-3 | 3 |
RefSeq proteins (2): NP_001257819, NP_060115* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026797 | HAUS_6 | Family |
| IPR028163 | HAUS_6_N | Domain |
Pfam: PF14661
UniProt features (35 total): modified residue 15, sequence conflict 8, region of interest 3, splice variant 3, sequence variant 3, chain 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7SQK | ELECTRON MICROSCOPY | 8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z4H7-F1 | 56.75 | 0.10 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (15): 550, 552, 584, 715, 728, 742, 805, 823, 908, 914, 943, 406, 507, 524, 530
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-8854518 | AURKA Activation by TPX2 |
MSigDB gene sets: 174 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, PAL_PRMT5_TARGETS_UP, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOLDRATH_ANTIGEN_RESPONSE, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, GOCC_CENTROSOME, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY
GO Biological Process (5): microtubule cytoskeleton organization (GO:0000226), centrosome cycle (GO:0007098), regulation of microtubule nucleation (GO:0010968), spindle assembly (GO:0051225), cell division (GO:0051301)
GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)
GO Cellular Component (8): centrosome (GO:0005813), cytosol (GO:0005829), HAUS complex (GO:0070652), mitotic spindle microtubule (GO:1990498), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856), microtubule (GO:0005874)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 2 |
| Centrosome maturation | 2 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 1 |
| Mitotic Prometaphase | 1 |
| Assembly of the 9+0 primary cilium | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| microtubule cytoskeleton | 2 |
| intracellular membraneless organelle | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| cell cycle process | 1 |
| microtubule organizing center organization | 1 |
| microtubule nucleation | 1 |
| regulation of microtubule polymerization | 1 |
| spindle organization | 1 |
| chromosome segregation | 1 |
| membraneless organelle assembly | 1 |
| cellular process | 1 |
| tubulin binding | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| microtubule associated complex | 1 |
| spindle microtubule | 1 |
| mitotic spindle | 1 |
| intracellular anatomical structure | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
1442 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HAUS6 | HAUS8 | Q9BT25 | 977 |
| HAUS6 | NEDD1 | Q8NHV4 | 977 |
| HAUS6 | HAUS3 | Q68CZ6 | 971 |
| HAUS6 | HAUS5 | O94927 | 956 |
| HAUS6 | HAUS1 | Q96CS2 | 939 |
| HAUS6 | HAUS7 | Q99871 | 934 |
| HAUS6 | NUMA1 | Q14980 | 919 |
| HAUS6 | HAUS4 | Q9H6D7 | 902 |
| HAUS6 | HAUS2 | Q9NVX0 | 877 |
| HAUS6 | TUBG1 | P23258 | 871 |
| HAUS6 | NDC80 | O14777 | 794 |
| HAUS6 | PSMD8 | P48556 | 749 |
| HAUS6 | UCHL5 | Q9Y5K5 | 648 |
| HAUS6 | CEP192 | Q8TEP8 | 614 |
| HAUS6 | PLK1 | P53350 | 610 |
IntAct
228 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| CEP290 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.890 |
| HAUS6 | HAUS2 | psi-mi:“MI:0915”(physical association) | 0.880 |
| HAUS2 | HAUS6 | psi-mi:“MI:0915”(physical association) | 0.880 |
| HAUS6 | HAUS8 | psi-mi:“MI:0915”(physical association) | 0.850 |
| HAUS6 | HAUS8 | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| HAUS8 | HAUS6 | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| HAUS6 | HAUS1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| HAUS1 | HAUS6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| HAUS1 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HAUS1 | HAUS5 | psi-mi:“MI:0914”(association) | 0.780 |
| HAUS6 | HAUS7 | psi-mi:“MI:0915”(physical association) | 0.770 |
| HAUS2 | HAUS5 | psi-mi:“MI:0914”(association) | 0.730 |
| HAUS6 | HAUS5 | psi-mi:“MI:0915”(physical association) | 0.710 |
| HAUS6 | HAUS3 | psi-mi:“MI:0915”(physical association) | 0.710 |
| HAUS6 | HAUS5 | psi-mi:“MI:0914”(association) | 0.710 |
| HAUS6 | HAUS4 | psi-mi:“MI:0915”(physical association) | 0.710 |
BioGRID (226): HAUS6 (Affinity Capture-MS), HAUS6 (Affinity Capture-MS), HAUS6 (Affinity Capture-MS), HAUS6 (Reconstituted Complex), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS), HAUS6 (Proximity Label-MS)
ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A1L2Y1, A2ALV5, A9JRX0, B2GUZ2, D3ZSP7, F1QB81, O35892, O70608, O75113, P23497, P70347, Q0P5X5, Q13129, Q16533, Q2T9I9, Q3U1D0, Q5CZC0, Q5H9M0, Q5REF4, Q5RHB5, Q5SW75, Q5T4T6, Q5T5J6, Q5XG69, Q5ZLE9, Q60664, Q63HN8, Q7M6U3, Q7Z4H7, Q80VH0, Q8BVK9, Q8C263, Q8CCC3, Q8NA03, Q90WN7, Q92844, Q96QP1
Diamond homologs: A0JMF7, Q7Z4H7
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HAUS6 | up-regulates | Microtubule_polimerization | |
| HAUS6 | “up-regulates activity” | NEDD1 | binding |
| HAUS6 | “form complex” | “HAUS complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 172 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 20 | 33.0× | 1e-23 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 20 | 33.0× | 1e-23 |
| AURKA Activation by TPX2 | 20 | 31.7× | 3e-23 |
| Recruitment of mitotic centrosome proteins and complexes | 20 | 28.3× | 3e-22 |
| Anchoring of the basal body to the plasma membrane | 24 | 28.3× | 2e-26 |
| Regulation of PLK1 Activity at G2/M Transition | 20 | 26.4× | 1e-21 |
| Recruitment of NuMA to mitotic centrosomes | 20 | 24.3× | 5e-21 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centriole replication | 8 | 40.1× | 3e-09 |
| centrosome cycle | 11 | 25.4× | 2e-10 |
| spindle assembly | 8 | 24.3× | 2e-07 |
| non-motile cilium assembly | 7 | 13.9× | 6e-05 |
| cilium assembly | 13 | 6.5× | 1e-05 |
| cell division | 19 | 6.0× | 8e-08 |
| protein transport | 13 | 3.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
179 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 142 |
| Likely benign | 10 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2613 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:19058911:T:TA | donor_gain | 1.0000 |
| 9:19060082:A:C | donor_gain | 1.0000 |
| 9:19060084:TTACT:T | donor_loss | 1.0000 |
| 9:19060085:TACT:T | donor_loss | 1.0000 |
| 9:19060086:A:AC | donor_gain | 1.0000 |
| 9:19060086:A:T | donor_loss | 1.0000 |
| 9:19060086:ACT:A | donor_gain | 1.0000 |
| 9:19060087:C:CG | donor_gain | 1.0000 |
| 9:19060087:CT:C | donor_gain | 1.0000 |
| 9:19060087:CTC:C | donor_gain | 1.0000 |
| 9:19060087:CTCA:C | donor_gain | 1.0000 |
| 9:19060087:CTCAA:C | donor_gain | 1.0000 |
| 9:19060090:A:AC | donor_gain | 1.0000 |
| 9:19060091:A:C | donor_gain | 1.0000 |
| 9:19060219:GCAAC:G | acceptor_gain | 1.0000 |
| 9:19060220:CAAC:C | acceptor_gain | 1.0000 |
| 9:19060220:CAACC:C | acceptor_gain | 1.0000 |
| 9:19060221:AAC:A | acceptor_gain | 1.0000 |
| 9:19060222:AC:A | acceptor_gain | 1.0000 |
| 9:19060223:CC:C | acceptor_gain | 1.0000 |
| 9:19060223:CCTAA:C | acceptor_loss | 1.0000 |
| 9:19060224:C:CA | acceptor_loss | 1.0000 |
| 9:19060224:C:CC | acceptor_gain | 1.0000 |
| 9:19060230:C:CT | acceptor_gain | 1.0000 |
| 9:19060231:A:T | acceptor_gain | 1.0000 |
| 9:19063002:TCTCA:T | donor_loss | 1.0000 |
| 9:19063003:CTCA:C | donor_loss | 1.0000 |
| 9:19063004:TCACC:T | donor_loss | 1.0000 |
| 9:19063005:CACC:C | donor_loss | 1.0000 |
| 9:19063006:AC:A | donor_loss | 1.0000 |
AlphaMissense
6359 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:19094353:G:C | F89L | 0.995 |
| 9:19094353:G:T | F89L | 0.995 |
| 9:19094355:A:G | F89L | 0.995 |
| 9:19094351:C:G | R90P | 0.994 |
| 9:19093235:A:C | F124L | 0.993 |
| 9:19093235:A:T | F124L | 0.993 |
| 9:19093237:A:G | F124L | 0.993 |
| 9:19093203:A:T | V135D | 0.991 |
| 9:19096760:A:C | F46L | 0.990 |
| 9:19096760:A:T | F46L | 0.990 |
| 9:19096762:A:G | F46L | 0.990 |
| 9:19078229:A:G | W380R | 0.989 |
| 9:19078229:A:T | W380R | 0.989 |
| 9:19094354:A:G | F89S | 0.988 |
| 9:19093227:A:G | L127P | 0.985 |
| 9:19094334:A:G | W96R | 0.985 |
| 9:19094334:A:T | W96R | 0.985 |
| 9:19096718:A:C | F60L | 0.983 |
| 9:19096718:A:T | F60L | 0.983 |
| 9:19096720:A:G | F60L | 0.983 |
| 9:19083031:A:G | W238R | 0.982 |
| 9:19083031:A:T | W238R | 0.982 |
| 9:19093260:A:G | F116S | 0.982 |
| 9:19094332:C:A | W96C | 0.981 |
| 9:19094332:C:G | W96C | 0.981 |
| 9:19078241:A:G | W376R | 0.980 |
| 9:19078241:A:T | W376R | 0.980 |
| 9:19094388:A:G | W78R | 0.980 |
| 9:19094388:A:T | W78R | 0.980 |
| 9:19096716:A:G | L61S | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000010902 (9:19062902 A>C,G), RS1000019067 (9:19086447 T>A), RS1000026334 (9:19094347 T>A,C), RS1000059650 (9:19098462 A>G), RS1000069868 (9:19086257 G>C,T), RS1000128428 (9:19054181 G>C), RS1000134442 (9:19090137 A>G), RS1000246637 (9:19090615 G>A), RS1000251034 (9:19089904 G>A), RS1000283731 (9:19094779 T>A), RS1000400828 (9:19094984 C>G,T), RS1000454240 (9:19085273 A>G), RS1000479529 (9:19067534 A>G), RS1000501251 (9:19080734 T>A,C), RS1000543982 (9:19078632 A>G)
Disease associations
OMIM: gene MIM:613433 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006085_39 | Prostate cancer | 7.000000e-14 |
| GCST006089_7 | Prostate cancer (early onset) | 8.000000e-07 |
| GCST006629_69 | Pulse pressure | 4.000000e-11 |
| GCST007269_103 | Pulse pressure | 7.000000e-11 |
| GCST009379_126 | Type 2 diabetes | 3.000000e-10 |
| GCST011320_19 | Type 2 diabetes or prostate cancer (pleiotropy) | 1.000000e-14 |
| GCST90002395_51 | Mean platelet volume | 2.000000e-18 |
| GCST90002402_104 | Platelet count | 7.000000e-13 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation, decreases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| FR900359 | increases phosphorylation | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Decitabine | decreases expression, affects reaction | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Azathioprine | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.