TASOR

Summary

TASOR (transcription activation suppressor, HGNC:30314) is a protein-coding gene on chromosome 3p14.3, encoding Protein TASOR (Q9UK61). Core component of the HUSH complex, a multiprotein complex that specifically mediates epigenetic repression of mobile genetic elements, such as retroviruses and transposable elements.

Enables chromatin binding activity. Involved in protein localization to heterochromatin and transposable element silencing by heterochromatin formation. Located in heterochromatin and nucleoplasm.

Source: NCBI Gene 23272 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 169 total
• MANE Select transcript: NM_001365635

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30314
Approved symbol	TASOR
Name	transcription activation suppressor
Location	3p14.3
Locus type	gene with protein product
Status	Approved
Aliases	se89-1, RAP140, KIAA1105, TASOR1
Ensembl gene	ENSG00000163946
Ensembl biotype	protein_coding
OMIM	616493
Entrez	23272

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000355628, ENST00000431842, ENST00000459993, ENST00000461863, ENST00000477406, ENST00000478052, ENST00000485156, ENST00000487036, ENST00000493960, ENST00000614531, ENST00000683822, ENST00000888591

RefSeq mRNA: 7 — MANE Select: NM_001365635 NM_001112736, NM_001363940, NM_001365635, NM_001365636, NM_001365637, NM_001365638, NM_015224

CCDS: CCDS2877, CCDS46853, CCDS87094, CCDS93292

Canonical transcript exons

ENST00000683822 — 24 exons

Exon	Start	End
ENSE00001079933	56638706	56638765
ENSE00001079939	56639986	56640130
ENSE00001079940	56641349	56641752
ENSE00001626343	56648985	56649057
ENSE00001645612	56633044	56633966
ENSE00001662128	56646522	56647223
ENSE00001755724	56660731	56660834
ENSE00001793081	56648822	56648893
ENSE00002216667	56670073	56670145
ENSE00002226085	56668397	56668558
ENSE00002264520	56671600	56671692
ENSE00002286882	56673580	56673725
ENSE00002308511	56669700	56669791
ENSE00003505974	56666260	56666384
ENSE00003513739	56624828	56625006
ENSE00003517019	56628492	56628614
ENSE00003525890	56663541	56663572
ENSE00003553966	56624479	56624643
ENSE00003555610	56627037	56627145
ENSE00003673601	56662385	56662490
ENSE00003686249	56627582	56627741
ENSE00003687666	56660914	56661017
ENSE00003917866	56620132	56623566
ENSE00003918800	56682676	56683265

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 97.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.8852 / max 43.7791, expressed in 1661 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42620	4.8852	1661

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.59	gold quality
oocyte	CL:0000023	96.91	gold quality
calcaneal tendon	UBERON:0003701	96.52	gold quality
corpus callosum	UBERON:0002336	96.48	gold quality
tendon	UBERON:0000043	95.60	gold quality
parietal pleura	UBERON:0002400	95.22	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.02	gold quality
endothelial cell	CL:0000115	94.88	gold quality
medial globus pallidus	UBERON:0002477	94.68	gold quality
pleura	UBERON:0000977	94.58	gold quality
adrenal tissue	UBERON:0018303	94.50	gold quality
tendon of biceps brachii	UBERON:0008188	94.49	gold quality
epithelium of nasopharynx	UBERON:0001951	94.44	gold quality
monocyte	CL:0000576	94.37	gold quality
mononuclear cell	CL:0000842	94.29	gold quality
visceral pleura	UBERON:0002401	94.29	gold quality
leukocyte	CL:0000738	94.28	gold quality
globus pallidus	UBERON:0001875	94.04	gold quality
germinal epithelium of ovary	UBERON:0001304	93.92	gold quality
lymph node	UBERON:0000029	93.88	gold quality
corpus epididymis	UBERON:0004359	93.69	gold quality
right uterine tube	UBERON:0001302	93.66	gold quality
ventricular zone	UBERON:0003053	93.50	gold quality
inferior olivary complex	UBERON:0002127	93.49	gold quality
tibia	UBERON:0000979	93.31	gold quality
endometrium	UBERON:0001295	93.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.27	gold quality
mucosa of stomach	UBERON:0001199	93.26	gold quality
colonic epithelium	UBERON:0000397	93.18	gold quality
cranial nerve II	UBERON:0000941	93.14	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.92
E-MTAB-6386	no	537.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

134 targeting TASOR, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-495-3P	99.96	72.81	4197

Literature-anchored findings (GeneRIF, showing 8)

• this study identified the HUSH (human silencing hub) complex, comprising three poorly characterized proteins, TASOR (FAM208A), MPP8, and periphilin; this complex is absent from Drosophila but is conserved from fish to humans. (PMID:26022416)
• The haploid screen identified HUSH, an epigenetic heterochromatin repressor complex composed of three subunits, TASOR, MPP8 and Periphilin. (Review) (PMID:26853531)
• Rap140/Fam208a probably encoding a transcription factor is the strongest candidate for a novel Blood pressure quantitative trait locus that acts via a putative Rap140/Fam208a-Slc7a12-BP pathway. (PMID:27391979)
• Genes co-repressed by TRIM28 and FAM208A are evolutionarily young, or exhibit tissue-specific expression, are enriched in young L1s, and display evidence for regulation through LTR promoters. Finally, we demonstrate that the HUSH complex is also required to repress L1 elements in human cells. (PMID:29728366)
• Periphilin self-association underpins epigenetic silencing by the HUSH complex. (PMID:32976585)
• TASOR is a pseudo-PARP that directs HUSH complex assembly and epigenetic transposon control. (PMID:33009411)
• TASOR epigenetic repressor cooperates with a CNOT1 RNA degradation pathway to repress HIV. (PMID:35013187)
• HUSH-mediated HIV silencing is independent of TASOR phosphorylation on threonine 819. (PMID:36309692)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tasorb	ENSDARG00000013346
danio_rerio	tasora	ENSDARG00000089893
mus_musculus	Tasor	ENSMUSG00000040651
rattus_norvegicus	Tasor	ENSRNOG00000014750
caenorhabditis_elegans		WBGENE00011720

Paralogs (1): TASOR2 (ENSG00000108021)

Protein

Protein identifiers

Protein TASOR — Q9UK61 (reviewed: Q9UK61)

Alternative names: CTCL tumor antigen se89-1, Retinoblastoma-associated protein RAP140, Transgene activation suppressor protein

All UniProt accessions (2): A0A087X0F1, Q9UK61

UniProt curated annotations — full annotation on UniProt →

Function. Core component of the HUSH complex, a multiprotein complex that specifically mediates epigenetic repression of mobile genetic elements, such as retroviruses and transposable elements. The HUSH complex represses LINE-1 (L1) retrotransposons that are still capable of transposition. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression. The HUSH complex also represses exogenous retroviruses and synthetic transgenes. The HUSH complex also represses expression of latent herpes simplex virus. Mediates silencing of unintegrated retroviral DNA following recruitment by ZNF638: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2, a chromatin remodeler that compacts chromatin. Within the HUSH complex, TASOR acts as the central scaffold which recruits MPHOSPH8 and PPHLN1 to mobile genetic elements and mediates association with SETDB1 and MORC2. The ability to silence mobile genetic elements plays a crucial role in early embryonic development: it is required to maintain epiblast cell fitness and cell division.

Subunit / interactions. Core component of the HUSH complex, also named HUSH1 complex, composed of TASOR, PPHLN1 and MPHOSPH8. Interacts with MORC2; recruiting MORC2 to heterochromatic loci. Interacts with ZNF638; leading to recruitment of the HUSH complex to unintegrated retroviral DNA. Interacts with INPP5A, EML1, SV1L, GPSM2, ITGB3BP, CNTN1, ETFA, PSMD8, S100A10, MPHOSPH8, TMEM100, ALB, PARPBP, HCFC2, NCBP1 and SETDB1.

Subcellular location. Nucleus. Chromosome.

Post-translational modifications. (Microbial infection) Ubiquitinated following interaction with HIV-2 viral protein Vpx; Vpx promotes interaction and with a DCX (DDB1-CUL4-X-box) E3 ubiquitin ligase, leading to proteasomal degradation.

Domain organisation. The TASOR pseudo-PARP domain is essential for the repression of mobile genetic elements.

Similarity. Belongs to the TASOR family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9UK61-1	1	yes
Q9UK61-2	2
Q9UK61-3	3
Q9UK61-4	4

RefSeq proteins (7): NP_001106207, NP_001350869, NP_001352564, NP_001352565, NP_001352566, NP_001352567, NP_056039 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022188	TASOR_DUF3715	Domain
IPR046432	TASOR	Family
IPR056242	PIN_TASOR	Domain
IPR056243	TASOR_ab_dom	Domain

Pfam: PF12509, PF23314, PF24630

UniProt features (66 total): modified residue 14, strand 12, helix 9, compositionally biased region 5, splice variant 5, sequence variant 5, cross-link 4, region of interest 4, sequence conflict 3, turn 2, initiator methionine 1, chain 1, domain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6TL1	X-RAY DIFFRACTION	2.03
6SWG	X-RAY DIFFRACTION	2.51

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UK61-F1	57.06	0.18

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 (18): 2, 344, 633, 636, 673, 800, 843, 927, 971, 979, 982, 1049, 1103, 1552, 586, 823, 832, 872

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9843970	Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-74160	Gene expression (Transcription)
R-HSA-9842860	Regulation of endogenous retroelements

MSigDB gene sets: 200 (showing top): FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, GOBP_AXIS_SPECIFICATION, GOBP_EMBRYONIC_AXIS_SPECIFICATION, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_PROTEIN_LOCALIZATION_TO_CHROMATIN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_EMBRYONIC_PATTERN_SPECIFICATION, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_SEGMENTATION

GO Biological Process (6): anterior/posterior axis specification, embryo (GO:0008595), negative regulation of gene expression, epigenetic (GO:0045814), mesodermal to mesenchymal transition involved in gastrulation (GO:0060809), protein localization to heterochromatin (GO:0097355), constitutive heterochromatin formation (GO:0140719), transposable element silencing by heterochromatin formation (GO:0141005)

GO Molecular Function (4): chromatin binding (GO:0003682), RNA binding (GO:0003723), protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)

GO Cellular Component (5): heterochromatin (GO:0000792), nucleoplasm (GO:0005654), HUSH complex (GO:0140283), nucleus (GO:0005634), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Regulation of endogenous retroelements	1
Gene expression (Transcription)	1
Epigenetic regulation of gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
embryonic axis specification	1
tripartite regional subdivision	1
anterior/posterior axis specification	1
negative regulation of gene expression	1
epigenetic regulation of gene expression	1
epithelial to mesenchymal transition	1
gastrulation	1
embryonic morphogenesis	1
protein localization to chromatin	1
heterochromatin formation	1
transposable element silencing	1
constitutive heterochromatin formation	1
nucleic acid binding	1
protein binding	1
molecular adaptor activity	1
chromatin	1
nuclear lumen	1
cellular anatomical structure	1
chromatin silencing complex	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

850 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TASOR	MPHOSPH8	Q99549	996
TASOR	PPHLN1	Q8NEY8	993
TASOR	SETDB1	Q15047	737
TASOR	MORC2	Q9Y6X9	705
TASOR	ZNF638	Q14966	512
TASOR	DCAF1	Q9Y4B6	489
TASOR	USP17L19	D6RCP7	473
TASOR	USP17L15	C9J2P7	448
TASOR	SUV39H2	Q9H5I1	446
TASOR	ATF7IP	Q6VMQ6	445
TASOR	ZCCHC8	Q6NZY4	425
TASOR	SPOCD1	Q6ZMY3	400
TASOR	RPRD2	Q5VT52	399
TASOR	TRIM28	Q13263	393
TASOR	YTHDC1	Q96MU7	393

IntAct

90 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SETDB1	MPHOSPH8	psi-mi:“MI:0914”(association)	0.560
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
CAPN2	MYO9A	psi-mi:“MI:0914”(association)	0.530
KLHL40	CBX4	psi-mi:“MI:0914”(association)	0.530
PSME1	POLR3A	psi-mi:“MI:0914”(association)	0.530
DAXX	TNRC18	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
SLC31A1	PRORP	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
TASOR	MPHOSPH8	psi-mi:“MI:0915”(physical association)	0.500
	CBX5	psi-mi:“MI:0914”(association)	0.500
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
TASOR	REEP5	psi-mi:“MI:0915”(physical association)	0.400
TBC1D4	TASOR	psi-mi:“MI:0915”(physical association)	0.370
TASOR	AP2M1	psi-mi:“MI:0915”(physical association)	0.370
PB2	HAX1	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	IPO5	psi-mi:“MI:0914”(association)	0.350
PPHLN1	MPHOSPH8	psi-mi:“MI:0914”(association)	0.350
TASOR	PPHLN1	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SNRPA	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPC	DDX39A	psi-mi:“MI:0914”(association)	0.350

BioGRID (141): FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Proximity Label-MS), FAM208A (Proximity Label-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FAM208A (Affinity Capture-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: Q2T9I9, Q5DTT3, Q5VWN6, Q69ZR9, Q9UK61

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TASOR	“form complex”	“HUSH epigenetic repressor complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 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
mRNA 3’-end processing	6	18.2×	5e-05
mRNA Polyadenylation	12	16.2×	3e-09
mRNA Splicing	8	13.5×	9e-06
Transport of Mature mRNA derived from an Intron-Containing Transcript	5	11.7×	3e-03
Processing of Capped Intron-Containing Pre-mRNA	9	11.4×	7e-06
mRNA Splicing - Major Pathway	13	10.9×	2e-08
Dengue Virus-Host Interactions	12	8.4×	2e-06
Metabolism of RNA	11	7.0×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	11	10.7×	4e-06
mRNA processing	9	7.5×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

169 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	124
Likely benign	10
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2857 predictions. Top by Δscore:

Variant	Effect	Δscore
3:56624474:GTTA:G	donor_loss	1.0000
3:56624475:TTAC:T	donor_loss	1.0000
3:56624476:TA:T	donor_loss	1.0000
3:56624477:A:AG	donor_loss	1.0000
3:56624478:CCT:C	donor_loss	1.0000
3:56624478:CCTGA:C	donor_gain	1.0000
3:56624639:CTTCT:C	acceptor_gain	1.0000
3:56624640:TTCT:T	acceptor_gain	1.0000
3:56624642:CT:C	acceptor_gain	1.0000
3:56624643:TC:T	acceptor_loss	1.0000
3:56624644:C:CA	acceptor_loss	1.0000
3:56624644:C:CC	acceptor_gain	1.0000
3:56624645:T:C	acceptor_loss	1.0000
3:56624648:A:AC	acceptor_gain	1.0000
3:56624649:T:C	acceptor_gain	1.0000
3:56624649:T:TC	acceptor_gain	1.0000
3:56627122:A:AC	acceptor_gain	1.0000
3:56639980:TCTTA:T	donor_loss	1.0000
3:56639981:CTTA:C	donor_loss	1.0000
3:56639982:TTAC:T	donor_loss	1.0000
3:56639983:TACC:T	donor_loss	1.0000
3:56639984:A:T	donor_loss	1.0000
3:56639985:C:CA	donor_loss	1.0000
3:56640129:TC:T	acceptor_gain	1.0000
3:56640129:TCC:T	acceptor_loss	1.0000
3:56640130:CC:C	acceptor_gain	1.0000
3:56640131:C:CC	acceptor_gain	1.0000
3:56640131:CTAAA:C	acceptor_loss	1.0000
3:56641347:A:AC	donor_gain	1.0000
3:56641348:C:CC	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000011993 (3:56636571 A>AT), RS1000054505 (3:56674687 T>C), RS1000068315 (3:56681633 C>A), RS1000086850 (3:56674466 C>A,T), RS1000147133 (3:56636202 C>G,T), RS1000205461 (3:56658733 C>T), RS1000261885 (3:56650030 C>G), RS1000285302 (3:56653129 G>A), RS1000334012 (3:56652989 G>A,T), RS1000334403 (3:56649650 G>A), RS1000434790 (3:56679232 T>C), RS1000505434 (3:56663140 G>A), RS1000532964 (3:56634541 T>C), RS1000537685 (3:56662882 A>G), RS1000600005 (3:56658868 T>C)

Disease associations

OMIM: gene MIM:616493 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): ependymoma (MONDO:0016698)

Orphanet (1): Ependymoma (Orphanet:251636)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000817_11	Height	5.000000e-13
GCST002647_13	Height	4.000000e-22
GCST003542_62	Night sleep phenotypes	5.000000e-06
GCST004280_94	Diastolic blood pressure	4.000000e-10
GCST005024_52	Pursuit maintenance gain	2.000000e-06
GCST007094_134	Diastolic blood pressure	5.000000e-10
GCST007099_59	Systolic blood pressure	3.000000e-07
GCST009391_1497	Metabolite levels	5.000000e-06
GCST010002_425	Refractive error	2.000000e-10
GCST012226_620	Waist circumference adjusted for body mass index	5.000000e-13
GCST012226_621	Waist circumference adjusted for body mass index	8.000000e-09
GCST012226_622	Waist circumference adjusted for body mass index	4.000000e-08
GCST012227_991	Hip circumference adjusted for BMI	1.000000e-13
GCST90000025_942	Appendicular lean mass	1.000000e-28
GCST90013466_41	Height	4.000000e-09
GCST90013466_70	Height	2.000000e-26
GCST90013467_14	Height	2.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007827	nighttime rest measurement
EFO:0006336	diastolic blood pressure
EFO:0008433	pursuit maintenance gain measurement
EFO:0006335	systolic blood pressure
EFO:0010416	triacylglycerol 52:4 measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D004806	Ependymoma	C04.557.465.625.600.380.290; C04.557.470.670.380.290; C04.557.580.625.600.380.290

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation	8
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
GSK-J4	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
bisphenol A	decreases methylation	1
afimoxifene	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
nickel chloride	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
Acetaminophen	decreases expression	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Carbamazepine	affects expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9TX	Ubigene HEK293 TASOR KO	Transformed cell line	Female

Clinical trials (associated diseases)

95 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00517959	PHASE3	UNKNOWN	SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors
NCT01096368	PHASE3	COMPLETED	Maintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Ependymoma
NCT00003479	PHASE2	TERMINATED	Antineoplaston Therapy in Treating Patients With Ependymoma
NCT00520936	PHASE2	COMPLETED	A Study of Pemetrexed in Children With Recurrent Cancer
NCT00840047	PHASE2	ACTIVE_NOT_RECRUITING	Methionine PET/CT Studies In Patients With Cancer
NCT01088035	PHASE2	TERMINATED	Carboplatin as a Radiosensitizer in Treating Childhood Ependymoma
NCT01247922	PHASE2	TERMINATED	Single-agent Erlotinib in Patients Previously Treated With Oral Etoposide in Protocol OSI-774-205
NCT01288235	PHASE2	COMPLETED	Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation
NCT01295944	PHASE2	COMPLETED	Carboplatin and Bevacizumab for Recurrent Ependymoma
NCT01356290	PHASE2	RECRUITING	Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
NCT01836549	PHASE2	TERMINATED	Imetelstat Sodium in Treating Younger Patients With Recurrent or Refractory Brain Tumors
NCT02125786	PHASE2	ACTIVE_NOT_RECRUITING	A Trial of Surgery and Fractionated Re-Irradiation for Recurrent Ependymoma
NCT02689336	PHASE2	WITHDRAWN	Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors
NCT03095248	PHASE2	TERMINATED	Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors
NCT03155620	PHASE2	ACTIVE_NOT_RECRUITING	Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03173950	PHASE2	COMPLETED	Immune Checkpoint Inhibitor Nivolumab in People With Recurrent Select Rare CNS Cancers
NCT03194906	PHASE2	COMPLETED	Memantine for Prevention of Cognitive Late Effects in Pediatric Patients Receiving Cranial Radiation Therapy for Localized Brain Tumors
NCT03210714	PHASE2	ACTIVE_NOT_RECRUITING	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652	PHASE2	ACTIVE_NOT_RECRUITING	Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213665	PHASE2	COMPLETED	Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
NCT03213678	PHASE2	COMPLETED	Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213704	PHASE2	ACTIVE_NOT_RECRUITING	Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial)
NCT03220035	PHASE2	COMPLETED	Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)
NCT03233204	PHASE2	COMPLETED	Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial)
NCT03526250	PHASE2	COMPLETED	Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial)
NCT03698994	PHASE2	ACTIVE_NOT_RECRUITING	Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
NCT03727841	PHASE2	TERMINATED	Marizomib for Recurrent Low-Grade and Anaplastic Supratentorial, Infratentorial, and Spinal Cord Ependymoma
NCT04049669	PHASE2	ACTIVE_NOT_RECRUITING	Pediatric Trial of Indoximod With Chemotherapy and Radiation for Relapsed Brain Tumors or Newly Diagnosed DIPG
NCT04195555	PHASE2	ACTIVE_NOT_RECRUITING	Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
NCT04284774	PHASE2	ACTIVE_NOT_RECRUITING	Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04320888	PHASE2	ACTIVE_NOT_RECRUITING	Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04374305	PHASE2	RECRUITING	Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2)
NCT04743661	PHASE2	ACTIVE_NOT_RECRUITING	131I-Omburtamab, in Recurrent Medulloblastoma and Ependymoma
NCT06804655	PHASE2	NOT_YET_RECRUITING	Pharmacoscopy for Patients With Refractory Primary Brain Tumors
NCT07424092	PHASE2	RECRUITING	Intratumoral DNX-2401 for High Grade Pediatric Brain Tumors
NCT00634231	PHASE1	COMPLETED	A Phase I Study of AdV-tk + Prodrug Therapy in Combination With Radiation Therapy for Pediatric Brain Tumors
NCT00994071	PHASE1	COMPLETED	A Phase I Study of ABT-888, an Oral Inhibitor of Poly(ADP-ribose) Polymerase and Temozolomide in Children With Recurrent/Refractory CNS Tumors
NCT01171469	PHASE1	COMPLETED	Vaccination With Dendritic Cells Loaded With Brain Tumor Stem Cells for Progressive Malignant Brain Tumor
NCT01331135	PHASE1	COMPLETED	Aflac ST0901 CHOANOME - Sirolimus in Solid Tumors
NCT01498783	PHASE1	COMPLETED	Phase I Study of 5-Fluorouracil in Children and Young Adults With Recurrent Ependymoma