NUTM1

Summary

NUTM1 (NUT midline carcinoma family member 1, HGNC:29919) is a protein-coding gene on chromosome 15q14, encoding NUT family member 1 (Q86Y26). Plays a role in the regulation of proliferation.

Predicted to be located in cytoplasm and nucleus.

Source: NCBI Gene 256646 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 147 total
• Phenotypes (HPO): 9
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 2 cancer types
• MANE Select transcript: NM_001284292

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29919
Approved symbol	NUTM1
Name	NUT midline carcinoma family member 1
Location	15q14
Locus type	gene with protein product
Status	Approved
Aliases	NUT, DKFZp434O192, FAM22H
Ensembl gene	ENSG00000184507
Ensembl biotype	protein_coding
OMIM	608963
Entrez	256646

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000333756, ENST00000438749, ENST00000537011

RefSeq mRNA: 3 — MANE Select: NM_001284292 NM_001284292, NM_001284293, NM_175741

CCDS: CCDS32190, CCDS61584, CCDS61585

Canonical transcript exons

ENST00000537011 — 8 exons

Exon	Start	End
ENSE00001290335	34354446	34354732
ENSE00001308844	34350704	34350832
ENSE00001309543	34353736	34353872
ENSE00001328067	34355021	34355137
ENSE00001367212	34347969	34348677
ENSE00002239768	34355488	34357735
ENSE00002274257	34343315	34343702
ENSE00002320889	34345942	34346035

Expression profiles

Bgee: expression breadth broad, 29 present calls, max score 87.22.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0800 / max 98.3365, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
145800	0.0800	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	87.22	gold quality
left ventricle myocardium	UBERON:0006566	87.08	gold quality
kidney epithelium	UBERON:0004819	83.57	gold quality
myocardium	UBERON:0002349	82.99	gold quality
right testis	UBERON:0004534	82.23	gold quality
left testis	UBERON:0004533	81.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.42	gold quality
pancreatic ductal cell	CL:0002079	80.77	silver quality
testis	UBERON:0000473	79.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.17	gold quality
tibialis anterior	UBERON:0001385	75.88	silver quality
deltoid	UBERON:0001476	75.56	gold quality
quadriceps femoris	UBERON:0001377	73.71	gold quality
epithelial cell of pancreas	CL:0000083	73.60	gold quality
upper arm skin	UBERON:0004263	73.16	gold quality
vastus lateralis	UBERON:0001379	72.99	gold quality
oocyte	CL:0000023	72.32	gold quality
ileal mucosa	UBERON:0000331	71.62	silver quality
germinal epithelium of ovary	UBERON:0001304	68.60	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	66.04	gold quality
mucosa of paranasal sinus	UBERON:0005030	65.82	gold quality
biceps brachii	UBERON:0001507	65.20	gold quality
superficial temporal artery	UBERON:0001614	64.96	gold quality
heart right ventricle	UBERON:0002080	64.66	gold quality
adult organism	UBERON:0007023	63.00	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	62.97	gold quality
lateral globus pallidus	UBERON:0002476	62.64	silver quality
epithelium of mammary gland	UBERON:0003244	62.59	gold quality
parotid gland	UBERON:0001831	62.47	gold quality
mammary duct	UBERON:0001765	62.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting NUTM1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-7705	98.69	67.47	543
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-450B-3P	97.56	66.12	512
HSA-MIR-769-3P	97.06	64.83	464

Literature-anchored findings (GeneRIF, showing 40)

• Wild type Brd4 inhibits G(1) to S progression and we also found that the Brd4-NUT fusion augments the inhibition of progression to S phase compared with wild type Brd4. (PMID:15994877)
• BRD-NUT fusion proteins contribute to carcinogenesis by associating with chromatin and interfering with epithelial differentiation. (PMID:17934517)
• Approximately, 20% of undifferentiated carcinomas of the upper aerodigestive tract not associated with EBV infection were found to have rearrangements of NUT by FISH. (PMID:18391746)
• Some carcinomas of the upper aerodigestive tract have a rearrangement of the nuclear protein of the testis (NUT) gene (NUT midline carcinomas). (PMID:19550370)
• Using a patient-derived cell line, the authors show that p300 sequestration into the chromatin-bound BRD4-NUT fusion protein foci is the principal oncogenic mechanism leading to p53 inactivation. (PMID:20676058)
• NUT gene rearrangement is associated with squamous cell carcinoma of the lung with long time survival. (PMID:20871268)
• study provides a novel mechanism by which the BRD4-NUT oncogene perturbs BRD4 functions to block cellular differentiation and to contribute to the oncogenic progression in the highly aggressive NUT midline carcinoma (PMID:21652721)
• Case Reports: 2 pediatric cases of nuclear protein of the testis (NUT) midline carcinoma suggestive of pulmonary origin. (PMID:22301500)
• Only one thymic carcinoma (2.7% of thymic carcinomas or 0.68% of TETs) was found positive for NUT expression and rearrangement (PMID:22425924)
• Determination of NUT protein expression and gene rearrangement can allow the differentiation of NUT midline carcinoma from upper-respiratory tract poorly differentiated malignant tumors (PMID:22777717)
• The novel BRD4-NUT fusion in which Exon 15 of BRD4 was fused to Exon 2 of NUT encodes a functional protein that is central to the oncogenic mechanism in these cells. (PMID:23128391)
• immunohistochemical study of 21 cases revealed a lack of nuclear expression of NUT by undifferentiated (anaplastic) thyroid carcinomas (PMID:23701453)
• Four cases with the expression of P16 in NUT carcinomas with no association with human papillomavirus are being described. (PMID:24185123)
• Case Report: NUT midline carcinoma in the nasal cavity with BRD4-NUT-rearrangement. (PMID:24655834)
• The involvement of the NSD3 methyltransferase as a component of the NUT fusion protein oncogenic complex identifies a new potential therapeutic target. (PMID:24875858)
• The clinical, radiographic, and histopathologic features of NUT midline carcinoma are discussed, as well as its management options. (PMID:24892275)
• Data support a model in which BRD4-NUT-stimulated histone hyperacetylation recruits additional BRD4 and interacting partners to support transcriptional activation, which underlies the BRD4-NUT oncogenic mechanism in NMC. (PMID:25512383)
• Thirty-seven (76%) malignant germ cell tumors were NUT positive but staining was usually of weak to moderate intensity and observed in a relatively small proportion of neoplastic cells. (PMID:25551299)
• Authors identified eight cases of primary pulmonary NMC over 4 years and, using a NUT immunohistochemistry screen, retrospectively identified one additional case from 166 consecutive biopsies of lung carcinomas lacking glandular differentiation. (PMID:26001144)
• discovered that the translocation oncoprotein BRD4-NUT protein occupies approximately 100-200 extremely broad, cell type-specific hyperacetylated domains in the genome (PMID:26220994)
• NUT gene rearrangement does not seem to be relevant in primary pulmonary carcinomas or carcinoid tumours of the lung (PMID:26341600)
• We postulate that BRD4-NUT (B4N) complexes override the preexisting histone code with new posttranslational modifications patterns that reflect aberrant transcription and that epigenetically modulate the nucleosome environment toward the NUT-midline carcinoma (NMC) state. (PMID:27698495)
• we also identified a complex genomic rearrangement involving the BRD4-NUT rearrangement underlying the simple t(15;19) karyotype in Nuclear protein in testis (NUT) midline carcinoma (PMID:28203693)
• Report subset of undifferentiated soft tissue and visceral tumors with NUTM1 gene fusions. (PMID:29356724)
• Review and case series found that NUT midline carcinoma has dismal prognosis. Radiotherapy and chemotherapy improves survival, but do not provide long term control except in anecdotal cases. No impact on overall survival was found based on type of molecular translocation, i.e., NUT-BRD4, NUT-BRD3 or other variants. (PMID:29356890)
• Fluorescence in situ hybridization and targeted next-generation sequencing identified a CIC-NUTM1 fusion resulting from t(15;19)(q14;q13.2). In light of morphologic features that overlap with those of NC from typical anatomical sites we have seen previously, the tumor was best classified as falling within the NC spectrum rather than CIC-associated sarcoma. (PMID:29700887)
• CIC-NUTM1 sarcomas represent a new molecular variant of CIC-fused sarcomas with a predilection for the central nervous system and younger pediatric population (PMID:30407212)
• Our results confirm that NUTM1 gene rearrangements are found outside the classic clinicopathological setting of NUT carcinoma (PMID:30723300)
• YAP1-MAML2 and YAP1-NUTM1 fusions have roles in poroma and porocarcinoma (PMID:31145701)
• YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal. (PMID:32436169)
• Thoracic nuclear protein in testis (NUT) carcinoma: expanded pathological spectrum with expression of thyroid transcription factor-1 and neuroendocrine markers. (PMID:33231320)
• Supercharging BRD4 with NUT in carcinoma. (PMID:33452461)
• Challenges and Opportunities in NUT Carcinoma Research. (PMID:33562801)
• NUTM1-rearranged colorectal sarcoma: a clinicopathologically and genetically distinctive malignant neoplasm with a poor prognosis. (PMID:33714983)
• NUT Is a Specific Immunohistochemical Marker for the Diagnosis of YAP1-NUTM1-rearranged Cutaneous Poroid Neoplasms. (PMID:33739783)
• Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study. (PMID:34211097)
• CIC-NUTM1 Sarcomas Affecting the Spine. (PMID:34525172)
• NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion. (PMID:35064291)
• NUT carcinoma, an under-recognized malignancy: a clinicopathologic and molecular series of 6 cases showing a subset of patients with better prognosis and a rare ZNF532::NUTM1 fusion. (PMID:35623465)
• Clinicopathologic features of an MXI1::NUTM1 fusion neoplasm; a new molecular variant of the family of NUTM1-rearranged neoplasm. (PMID:35791777)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Nutm1	ENSMUSG00000041358
rattus_norvegicus	Nutm1	ENSRNOG00000005111

Paralogs (6): NUTM2F (ENSG00000130950), NUTM2A (ENSG00000184923), NUTM2G (ENSG00000188152), NUTM2B (ENSG00000188199), NUTM2D (ENSG00000214562), NUTM2E (ENSG00000228570)

Protein

Protein identifiers

NUT family member 1 — Q86Y26 (reviewed: Q86Y26)

Alternative names: Nuclear protein in testis

All UniProt accessions (1): Q86Y26

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the regulation of proliferation. Regulates TERT expression by modulating SP1 binding to TERT promoter binding sites.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Specifically expressed in testis.

Post-translational modifications. Methylated at Gln-1046 by N6AMT1. Phosphorylation on Ser-1026, Ser-1029 or Ser-1031 is important for cytoplasmic export.

Disease relevance. A chromosomal aberration involving NUTM1 is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;19)(q14;p13) with BRD4 which produces a BRD4-NUTM1 fusion protein. A chromosomal aberration involving NUTM1 is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;9)(q14;q34) with BRD3 which produces a BRD3-NUTM1 fusion protein.

Similarity. Belongs to the NUT family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q86Y26-1	1	yes
Q86Y26-2	2
Q86Y26-3	3
Q86Y26-4	4

RefSeq proteins (3): NP_001271221, NP_001271222, NP_786883 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024309	NUT_N	Domain
IPR024310	NUT	Family

Pfam: PF12881

UniProt features (41 total): compositionally biased region 9, region of interest 8, sequence variant 6, splice variant 5, modified residue 4, helix 3, chain 1, site 1, mutagenesis site 1, sequence conflict 1, turn 1, strand 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7XEZ	SOLUTION NMR
7XFG	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86Y26-F1	45.68	0.06

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 5–6 (breakpoint for translocation to form brd4-nutm1 and brd3-nutm1 fusion proteins)

Post-translational modifications (4): 1026, 1029, 1031, 1046

Mutagenesis-validated functional residues (1):

Position	Phenotype
1046	abolishes methylation by n6amt1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 51 (showing top): chr15q14, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, ATF5_TARGET_GENES, ATF6_TARGET_GENES, DIDO1_TARGET_GENES, DLX4_TARGET_GENES, E2F2_TARGET_GENES, ELF2_TARGET_GENES, HMG20B_TARGET_GENES, LHX9_TARGET_GENES, NFE2L1_TARGET_GENES, SKIL_TARGET_GENES, TEAD2_TARGET_GENES, TFEB_TARGET_GENES, WDHD1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1086 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUTM1	BRD4	O60885	982
NUTM1	NSD3	Q9BZ95	810
NUTM1	BRD3	Q15059	804
NUTM1	ZNF532	Q9HCE3	781
NUTM1	EP300	Q09472	755
NUTM1	NOP10	Q9NPE3	733
NUTM1	BRD2	P25440	679
NUTM1	BRDT	Q58F21	676
NUTM1	CDK9	P50750	597
NUTM1	HEXIM1	O94992	593
NUTM1	BRD9	Q9H8M2	591
NUTM1	DUX4L2	P0CJ85	586
NUTM1	SMARCB1	Q12824	582
NUTM1	CCNT1	O60563	561
NUTM1	ZNF618	Q5T7W0	528

IntAct

84 interactions, top by confidence:

A	B	Type	Score
ALOX5	NUTM1	psi-mi:“MI:0915”(physical association)	0.670
NUTM1	P4HA3	psi-mi:“MI:0915”(physical association)	0.670
NUTM1	ALOX5	psi-mi:“MI:0915”(physical association)	0.670
P4HA3	NUTM1	psi-mi:“MI:0915”(physical association)	0.670
NUTM1	KANSL1	psi-mi:“MI:0915”(physical association)	0.560
ZMYND10	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	NEBL	psi-mi:“MI:0915”(physical association)	0.560
LMO2	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
LMO1	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	PRKAA2	psi-mi:“MI:0915”(physical association)	0.560
TP53BP2	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	PSME4	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	FAM161A	psi-mi:“MI:0915”(physical association)	0.560
LHX8	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
KPNA2	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
NUTM1		psi-mi:“MI:0915”(physical association)	0.560
	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
IFIT2	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	MORN4	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	LMO3	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	CCHCR1	psi-mi:“MI:0915”(physical association)	0.560
ZNF277	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
NUTM1	HSPBAP1	psi-mi:“MI:0915”(physical association)	0.560
SH2D4A	NUTM1	psi-mi:“MI:0915”(physical association)	0.560
RIC8A	NUTM1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (71): NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid), NUTM1 (Two-hybrid)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: A1L443, A6NNL0, B1AL46, Q3V0C3, Q5VT03, Q5VZR2, Q86Y26, Q8BHP2, Q8IVF1

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 2 cancer types — ESCA, OVT.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	133
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

911 predictions. Top by Δscore:

Variant	Effect	Δscore
15:34350702:A:AG	acceptor_gain	1.0000
15:34350703:G:GG	acceptor_gain	1.0000
15:34350703:GCCCA:G	acceptor_gain	1.0000
15:34354442:TTA:T	acceptor_loss	1.0000
15:34354443:TAGT:T	acceptor_loss	1.0000
15:34354444:A:AG	acceptor_gain	1.0000
15:34354444:AG:A	acceptor_loss	1.0000
15:34354444:AGT:A	acceptor_gain	1.0000
15:34354445:G:GT	acceptor_gain	1.0000
15:34354445:GT:G	acceptor_gain	1.0000
15:34354445:GTG:G	acceptor_gain	1.0000
15:34354445:GTGT:G	acceptor_gain	1.0000
15:34354445:GTGTA:G	acceptor_gain	1.0000
15:34354729:CAAG:C	donor_loss	1.0000
15:34354730:AAGG:A	donor_loss	1.0000
15:34354731:AGGTG:A	donor_loss	1.0000
15:34354733:G:T	donor_loss	1.0000
15:34354734:T:A	donor_loss	1.0000
15:34355011:T:A	acceptor_gain	1.0000
15:34355016:TCCAG:T	acceptor_loss	1.0000
15:34355017:CCA:C	acceptor_loss	1.0000
15:34355018:CAGGT:C	acceptor_loss	1.0000
15:34355019:A:AG	acceptor_gain	1.0000
15:34355019:AGGT:A	acceptor_gain	1.0000
15:34355020:G:GG	acceptor_gain	1.0000
15:34355020:G:GT	acceptor_loss	1.0000
15:34355020:GGTG:G	acceptor_gain	1.0000
15:34355133:CCCAG:C	donor_loss	1.0000
15:34355135:CAGG:C	donor_loss	1.0000
15:34355136:AGGTA:A	donor_loss	1.0000

AlphaMissense

7468 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:34348670:T:C	F240L	0.989
15:34348672:T:A	F240L	0.989
15:34348672:T:G	F240L	0.989
15:34350782:G:C	W268C	0.988
15:34350782:G:T	W268C	0.988
15:34350780:T:A	W268R	0.983
15:34350780:T:C	W268R	0.983
15:34353737:T:C	F286L	0.982
15:34353739:C:A	F286L	0.982
15:34353739:C:G	F286L	0.982
15:34350813:T:C	F279L	0.981
15:34350815:T:A	F279L	0.981
15:34350815:T:G	F279L	0.981
15:34355045:T:C	F435L	0.981
15:34355047:T:A	F435L	0.981
15:34355047:T:G	F435L	0.981
15:34355046:T:C	F435S	0.980
15:34350769:C:A	A264D	0.976
15:34353738:T:C	F286S	0.971
15:34355058:T:C	L439P	0.971
15:34350805:G:C	R276P	0.970
15:34348601:T:A	W217R	0.969
15:34348601:T:C	W217R	0.969
15:34348671:T:C	F240S	0.967
15:34350781:G:C	W268S	0.964
15:34348603:G:C	W217C	0.963
15:34348603:G:T	W217C	0.963
15:34353746:T:C	F289L	0.962
15:34353748:T:A	F289L	0.962
15:34353748:T:G	F289L	0.962

dbSNP variants (sampled 300 via entrez): RS1000002515 (15:34346819 G>A,C), RS1000330316 (15:34352576 A>G), RS1000565122 (15:34341827 A>G), RS1000684675 (15:34357936 A>G), RS1000789598 (15:34355204 C>T), RS1000906218 (15:34351398 AAAG>A), RS1000923738 (15:34358192 C>T), RS1001120306 (15:34341622 G>T), RS1001348502 (15:34347818 A>C,G), RS1001403389 (15:34352398 T>A), RS1001505082 (15:34351589 T>C), RS1001507358 (15:34351685 G>C), RS1001544112 (15:34346701 G>A,T), RS1001738724 (15:34345237 T>C), RS1002340596 (15:34350788 C>T)

Disease associations

OMIM: gene MIM:608963 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0001909	Leukemia
HP:0002664	Neoplasm
HP:0002860	Squamous cell carcinoma
HP:0003006	Neuroblastoma
HP:0012142	Pancreatic squamous cell carcinoma
HP:0012182	Oropharyngeal squamous cell carcinoma
HP:0012254	Ewing sarcoma
HP:0045026	Abnormal mediastinum morphology
HP:0100757	Pancreatoblastoma

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
afimoxifene	affects response to substance	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
tebuconazole	increases expression	1
(+)-JQ1 compound	affects binding, decreases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1
Lipopolysaccharides	increases expression, affects cotreatment	1
Silicon Dioxide	increases expression	1
Aflatoxin B1	increases methylation	1

Cellosaurus cell lines

16 cell lines: 16 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_1664	RPMI-2650	Cancer cell line	Male
CVCL_3220	Ty-82	Cancer cell line	Female
CVCL_5132	HCC2429	Cancer cell line	Female
CVCL_C8YK	PER-403	Cancer cell line	Female
CVCL_C8YW	PER-624	Cancer cell line	Female
CVCL_C8YX	PER-704	Cancer cell line	Male
CVCL_C8YZ	TC-797	Cancer cell line	Male
CVCL_C8Z0	10326	Cancer cell line
CVCL_C9CL	14169	Cancer cell line
CVCL_C9CM	11060	Cancer cell line

Clinical trials (associated diseases)

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