BCAS4

Summary

BCAS4 (breast carcinoma amplified sequence 4, HGNC:14367) is a protein-coding gene on chromosome 20q13.13, encoding Breast carcinoma-amplified sequence 4 (Q8TDM0).

Predicted to be located in cytoplasm. Predicted to be part of BLOC-1 complex.

Source: NCBI Gene 55653 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 51 total
• GTEx eGene: eQTL in 37 tissues, sQTL in 7 (q < 0.05)
• Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 1.08 (unconstrained)
• MANE Select transcript: NM_198799
• Notable: 51 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14367
Approved symbol	BCAS4
Name	breast carcinoma amplified sequence 4
Location	20q13.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20495, CNOL
Ensembl gene	ENSG00000124243
Ensembl biotype	protein_coding
OMIM	607471
Entrez	55653

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 17 protein_coding, 6 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000371608

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 5, TSL 5: 1

ENST00000371608, ENST00000358791, ENST00000445038, ENST00000463943, ENST00000485049, ENST00000609336, ENST00000912026, ENST00000912027, ENST00000912028, ENST00000912029, ENST00000912030, ENST00000912031, ENST00000912033, ENST00000993680, ENST00001042168, ENST00001042169, ENST00001042171, ENST00001042172, ENST00001079434, ENST00001079435, ENST00001079436, ENST00001079438, ENST00001101470, ENST00001133496

RefSeq mRNA: 3 — MANE Select: NM_198799 NM_001010974, NM_017843, NM_198799

CCDS: CCDS13432, CCDS33487

Canonical transcript exons

ENST00000371608 — 5 exons

Exon	Start	End
ENSE00001556559	50795061	50795173
ENSE00003477470	50830279	50830380
ENSE00003528368	50818211	50818282
ENSE00003608837	50876486	50877177
ENSE00003662327	50841766	50841900

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 86.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 83.4044 / max 1756.4253, expressed in 1515 samples.

Highest expression (Bgee): cerebellar vermis, lymph node, endothelial cell, prefrontal cortex, buccal mucosa cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

BCAS4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 37 tissues and its splicing (sQTL) in 7 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 44 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Brain Cortex	eqtl	5.8e-26	-0.49	20:50877333:G:A
Brain Nucleus accumbens basal ganglia	eqtl	1.4e-22	-0.47	20:50875343:C:T
Brain Caudate basal ganglia	eqtl	2.4e-22	-0.34	20:50877333:G:A
Brain Anterior cingulate cortex BA24	eqtl	8.2e-22	-0.43	20:50875343:C:T
Brain Frontal Cortex BA9	eqtl	2.2e-19	-0.39	20:50899563:A:T
Brain Cerebellum	eqtl	1.8e-15	-0.50	20:50877072:G:A
Cells EBV-transformed lymphocytes	sqtl	1.9e-15	-2.21	20:50874636:C:G
Cells Cultured fibroblasts	eqtl	5.3e-15	+0.31	20:50829839:T:A
Brain Putamen basal ganglia	eqtl	2.2e-14	-0.36	20:50877333:G:A
Whole Blood	eqtl	3.6e-13	+0.17	20:50810451:G:T
Brain Cerebellar Hemisphere	eqtl	2.2e-12	-0.45	20:50877333:G:A
Cells EBV-transformed lymphocytes	eqtl	4.8e-11	+0.45	20:50814221:G:A
Skin Sun Exposed Lower leg	eqtl	2.5e-10	-0.28	20:50875343:C:T
Esophagus Gastroesophageal Junction	eqtl	8.5e-10	-0.22	20:50877333:G:A
Thyroid	eqtl	3.8e-09	-0.23	20:50925324:T:C
Prostate	eqtl	3.3e-08	-0.37	20:50899563:A:T
Artery Aorta	eqtl	9.6e-08	-0.27	20:50885630:T:C
Artery Tibial	eqtl	2.7e-07	-0.18	20:50877072:G:A
Lung	eqtl	2.8e-07	-0.22	20:50879641:C:G
Esophagus Mucosa	eqtl	1.1e-06	-0.23	20:50899563:A:T

FANTOM5 promoters

4 alternative TSS:

Promoter ID	TPM avg	Samples expressed
185292	80.9146	1497
185290	1.4342	308
185289	0.5840	189
185291	0.4716	134

Top tissues by expression

showing 100 of 278 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	86.62	silver quality
lymph node	UBERON:0000029	85.19	gold quality
endothelial cell	CL:0000115	84.72	silver quality
prefrontal cortex	UBERON:0000451	83.72	gold quality
buccal mucosa cell	CL:0002336	83.39	gold quality
nucleus accumbens	UBERON:0001882	83.06	gold quality
anterior cingulate cortex	UBERON:0009835	83.04	gold quality
cingulate cortex	UBERON:0003027	82.91	gold quality
stromal cell of endometrium	CL:0002255	82.68	gold quality
pigmented layer of retina	UBERON:0001782	82.60	gold quality
vena cava	UBERON:0004087	82.53	silver quality
right frontal lobe	UBERON:0002810	82.37	gold quality
ventricular zone	UBERON:0003053	81.94	gold quality
neocortex	UBERON:0001950	81.53	gold quality
frontal cortex	UBERON:0001870	81.38	gold quality
granulocyte	CL:0000094	81.36	gold quality
Ammon’s horn	UBERON:0001954	81.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	81.12	gold quality
cerebral cortex	UBERON:0000956	80.54	gold quality
mucosa of stomach	UBERON:0001199	80.23	gold quality
middle temporal gyrus	UBERON:0002771	80.15	gold quality
lateral nuclear group of thalamus	UBERON:0002736	80.06	silver quality
telencephalon	UBERON:0001893	79.96	gold quality
caudate nucleus	UBERON:0001873	79.76	gold quality
tonsil	UBERON:0002372	79.45	gold quality
primary visual cortex	UBERON:0002436	79.37	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.34	gold quality
ascending aorta	UBERON:0001496	79.28	gold quality
cortical plate	UBERON:0005343	79.22	gold quality
thoracic aorta	UBERON:0001515	79.19	gold quality
Brodmann (1909) area 23	UBERON:0013554	79.12	gold quality
descending thoracic aorta	UBERON:0002345	79.11	gold quality
forebrain	UBERON:0001890	78.97	gold quality
putamen	UBERON:0001874	78.87	gold quality
spleen	UBERON:0002106	78.77	gold quality
ganglionic eminence	UBERON:0004023	78.65	gold quality
right coronary artery	UBERON:0001625	78.46	gold quality
brain	UBERON:0000955	78.27	gold quality
entorhinal cortex	UBERON:0002728	77.99	gold quality
saphenous vein	UBERON:0007318	77.93	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.91	gold quality
pons	UBERON:0000988	77.82	gold quality
temporal lobe	UBERON:0001871	77.80	gold quality
occipital lobe	UBERON:0002021	77.78	gold quality
amygdala	UBERON:0001876	77.70	gold quality
cerebellar cortex	UBERON:0002129	77.15	gold quality
right hemisphere of cerebellum	UBERON:0014890	77.12	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	77.08	gold quality
cerebellar hemisphere	UBERON:0002245	77.04	gold quality
aorta	UBERON:0000947	77.02	gold quality
blood	UBERON:0000178	76.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	76.87	gold quality
superior frontal gyrus	UBERON:0002661	76.86	gold quality
superior surface of tongue	UBERON:0007371	76.78	gold quality
cerebellum	UBERON:0002037	76.44	gold quality
cardia of stomach	UBERON:0001162	76.31	gold quality
substantia nigra pars compacta	UBERON:0001965	76.30	gold quality
epithelium of nasopharynx	UBERON:0001951	76.28	gold quality
caecum	UBERON:0001153	76.07	gold quality
parietal lobe	UBERON:0001872	76.01	gold quality
lateral globus pallidus	UBERON:0002476	75.98	silver quality
postcentral gyrus	UBERON:0002581	75.90	gold quality
ventral tegmental area	UBERON:0002691	75.82	silver quality
oocyte	CL:0000023	75.67	silver quality
popliteal artery	UBERON:0002250	75.41	gold quality
islet of Langerhans	UBERON:0000006	75.39	gold quality
tibial artery	UBERON:0007610	75.37	gold quality
vermiform appendix	UBERON:0001154	75.28	gold quality
gingival epithelium	UBERON:0001949	75.27	silver quality
coronary artery	UBERON:0001621	75.19	gold quality
cauda epididymis	UBERON:0004360	75.18	gold quality
tongue	UBERON:0001723	75.16	silver quality
hypothalamus	UBERON:0001898	75.14	gold quality
subthalamic nucleus	UBERON:0001906	75.02	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.99	gold quality
pericardium	UBERON:0002407	74.89	gold quality
left coronary artery	UBERON:0001626	74.78	gold quality
substantia nigra pars reticulata	UBERON:0001966	74.78	gold quality
trachea	UBERON:0003126	74.73	silver quality
inferior vagus X ganglion	UBERON:0005363	74.71	silver quality
pylorus	UBERON:0001166	74.69	silver quality
trigeminal ganglion	UBERON:0001675	74.65	silver quality
biceps brachii	UBERON:0001507	74.61	gold quality
bronchial epithelial cell	CL:0002328	74.44	gold quality
dorsal root ganglion	UBERON:0000044	74.40	gold quality
amniotic fluid	UBERON:0000173	74.40	gold quality
superior vestibular nucleus	UBERON:0007227	74.36	gold quality
prostate gland	UBERON:0002367	74.34	gold quality
heart right ventricle	UBERON:0002080	74.21	gold quality
midbrain	UBERON:0001891	74.06	gold quality
dorsal plus ventral thalamus	UBERON:0001897	74.04	silver quality
decidua	UBERON:0002450	74.02	gold quality
substantia nigra	UBERON:0002038	73.88	gold quality
fundus of stomach	UBERON:0001160	73.80	gold quality
globus pallidus	UBERON:0001875	73.75	silver quality
endocervix	UBERON:0000458	73.67	gold quality
body of uterus	UBERON:0009853	73.65	gold quality
secondary oocyte	CL:0000655	73.64	silver quality
lower lobe of lung	UBERON:0008949	73.53	silver quality
esophagogastric junction muscularis propria	UBERON:0035841	73.47	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	191686.57
E-MTAB-7407	yes	88141.46
E-MTAB-9543	yes	11134.64
E-MTAB-9221	yes	787.30
E-ANND-3	yes	21.39
E-CURD-122	yes	18.08
E-GEOD-130148	yes	9.35
E-MTAB-8498	no	56.67

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Tonsil	tissue	39.1	medium
Lymph node	tissue	38.8	low
Hippocampus	tissue	32.4	medium
Postcentral gyrus	tissue	22.5
Choroid plexus	tissue	20.5
Nucleus accumbens	tissue	19.1
Thymus	tissue	18.8
Basal ganglia	tissue	16.1	medium
Cerebral cortex	tissue	14.9	medium
Somatosensory cortex	tissue	14.9
Locus coeruleus	tissue	14.5
Hippocampal formation	tissue	14.4
Entorhinal cortex	tissue	14.4
Temporal cortex	tissue	14.3
Occipital cortex	tissue	13.8
Putamen	tissue	13.1
Prefrontal cortex	tissue	13.0
Cingulate cortex	tissue	13.0
Motor cortex	tissue	12.8
Ventral pallidum	tissue	12.3
Appendix	tissue	12.3	high
Insular cortex	tissue	12.3
Olfactory bulb	tissue	12.1
Retrosplenial cortex	tissue	11.7
Pons	tissue	11.4
Superior colliculi	tissue	11.0
Midbrain	tissue	10.9
Septum	tissue	10.9
Thalamus	tissue	10.8
Medulla oblongata	tissue	10.4
Spinal cord	tissue	9.8
Substantia nigra	tissue	9.6
Periaqueductal gray	tissue	9.5
Spleen	tissue	9.4	medium
Amygdala	tissue	9.3
Cerebellum	tissue	9.2	medium
Hypothalamus	tissue	9.0
Parathyroid gland	tissue	8.4	high
Seminal vesicle	tissue	8.2	medium
Corpus callosum	tissue	8.0
Pituitary gland	tissue	6.1
Thyroid gland	tissue	5.9	medium
Urinary bladder	tissue	5.8	high
Epididymis	tissue	5.7	high
Prostate	tissue	5.6	high
Vagina	tissue	4.3	medium
Esophagus	tissue	4.2	high
Salivary gland	tissue	3.9	medium
Stomach 1	tissue	3.7	medium
Endometrium 1	tissue	3.6	medium
Bone marrow	tissue	3.6	low
Placenta	tissue	3.4	high
Breast	tissue	3.3	medium
Testis	tissue	3.2	medium
Lung	tissue	3.2	medium
Heart muscle	tissue	3.1	high
Gallbladder	tissue	3.1	high
Fallopian tube	tissue	3.1	medium
Smooth muscle	tissue	3.0	medium
Pancreas	tissue	2.8	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Hippocampus, CA1 (41.9), Posterior cingulate cortex (41.5), Hippocampus, CA3 (36.4), Hippocampus, CA2 (35.7), Dentate gyrus (33.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting BCAS4 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

21 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-4638-3P	97.90	65.75	905

Functional genomics

gnomAD constraint: pLI 0.0103, LOEUF 1.08, missense Z 0.153 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000371608 — one region, missense o/e 0.94.

Literature-anchored findings (GeneRIF, showing 1)

• BCAS3 (17q23) and BCAS4 (20q13) undergo amplification, overexpression, and fusion in breast cancer. (PMID:12378525)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	Blos4	FBGN0036105

Paralogs (1): BLOC1S4 (ENSG00000186222)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Mus musculus	Q8VED2	81.6%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ADNP	protein-coding	23394
MOCS3	protein-coding	27304
KCNG1	protein-coding	3755
DPM1	protein-coding	8813
RIPOR3-AS1	ncRNA	100506175
RIPOR3	protein-coding	140876
PARD6B	protein-coding	84612
ADNP-AS1	ncRNA	101927631
MIR1302-5	ncRNA	100302146
PTPN1	protein-coding	5770
MIR645	ncRNA	693230

Protein

Protein identifiers

Breast carcinoma-amplified sequence 4 — Q8TDM0 (reviewed: Q8TDM0)

All UniProt accessions (5): A0A0C4DGS6, A0A0C4DH49, A0A804CEY2, H7C4Y8, Q8TDM0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Brain, thymus, spleen, kidney and placenta. Overexpressed in most breast cancer cell lines.

Disease relevance. A chromosomal aberration involving BCAS4 has been found in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13) with BCAS3.

Similarity. Belongs to the cappuccino family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TDM0-1	1	yes
Q8TDM0-2	2
Q8TDM0-3	3

RefSeq proteins (3): NP_001010974, NP_060313, NP_942094* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024857	Cappuccino	Family

UniProt features (9 total): splice variant 4, sequence variant 2, chain 1, region of interest 1, site 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TDM0-F1	72.40	0.36

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; intermediate filaments

Antibody reliability (HPA): IH uncertain · IF approved

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)

Position	Role
60–61	breakpoint for translocation to form bcas4-bcas3

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 71 (showing top): GCANCTGNY_MYOD_Q6, LIAO_METASTASIS, MODULE_95, GOCC_BLOC_1_COMPLEX, NUYTTEN_EZH2_TARGETS_DN, GOCC_BLOC_COMPLEX, NIKOLSKY_BREAST_CANCER_20Q12_Q13_AMPLICON, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_UP, MODULE_49, LU_EZH2_TARGETS_UP, PEDRIOLI_MIR31_TARGETS_UP, MODULE_163, DCA_UP.V1_UP, CHAF1B_TARGET_GENES, DROSHA_TARGET_GENES

GO Cellular Component (2): cytoplasm (GO:0005737), BLOC-1 complex (GO:0031083)

GO top-level categories

3 GO namespaces:

Category	Terms
intracellular anatomical structure	1
cellular anatomical structure	1
BLOC complex	1

Protein interactions and networks

STRING

showing 15 of 462 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BCAS4	BCAS3	Q9H6U6	969
BCAS4	ZC3H12D	A2A288	531
BCAS4	BCAS2	O75934	473
BCAS4	ARFGEF2	Q9Y6D5	466
BCAS4	SHISA7	A6NL88	429
BCAS4	SULF2	Q8IWU5	408
BCAS4	NPIPA9	A0A0B4J1W7	400
BCAS4	BCAS1	O75363	396
BCAS4	MTA1	Q13330	395
BCAS4	FAM209B	Q5JX69	375
BCAS4	PFDN4	Q9NQP4	371
BCAS4	OR9K2	Q8NGE7	370
BCAS4	CDC27	P30260	370
BCAS4	TAB3	Q8N5C8	370
BCAS4	PHACTR3	Q96KR7	370

IntAct

Human interaction partners of BCAS4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
SNAPIN	association	0.350	2

BioGRID (41 interactions; top human partners by supporting records): BLOC1S1 (Affinity Capture-MS; 4 records), ATG4A (Affinity Capture-MS; 3 records), BLOC1S2 (Affinity Capture-MS; 3 records), BLOC1S3 (Affinity Capture-MS; 3 records), BLOC1S5 (Affinity Capture-MS; 3 records), BLOC1S6 (Affinity Capture-MS; 3 records), DTNBP1 (Affinity Capture-MS; 3 records), LOH12CR1 (Affinity Capture-MS; 3 records), PKD2 (Affinity Capture-MS; 3 records), SNAPIN (Affinity Capture-MS; 3 records), SRCIN1 (Affinity Capture-MS; 3 records), C10orf32 (Affinity Capture-MS; 2 records), DPY30 (Two-hybrid), EGFR (Negative Genetic), ENKD1 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for BCAS4: 51 ClinVar records (0 pathogenic / likely pathogenic); 5 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	8
Benign	2

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 824):

Position(s)	Effect	Δscore	Sites
20:50795174–50795175	donor_loss	1.0000	4
20:50818209–50818210	acceptor_loss	1.0000	6
20:50830277–50830278	acceptor_loss	1.0000	6
20:50830381–50830382	donor_loss	1.0000	4
20:50841898	donor_gain	1.0000
20:50876484–50876485	acceptor_loss	1.0000	6
20:50795174	donor_loss	0.9900
20:50830381	donor_loss	0.9900
20:50841901–50841902	donor_loss	0.9900	5
20:50805039	donor_gain	0.9800

AlphaMissense

175 missense substitutions predicted likely pathogenic (of 1,308 scored), across 66 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F120	8	0.831	0.971
F78	7	0.874	0.975
D88	7	0.694	0.862
M71	6	0.652	0.692
V121	5	0.709	0.951
E132	5	0.693	0.771
D115	5	0.611	0.701
I85	4	0.825	0.935
R86	4	0.800	0.849
E118	4	0.692	0.751
W152	4	0.667	0.760
F52	3	0.866	0.866
M107	3	0.835	0.848
M123	3	0.815	0.815
L117	3	0.809	0.883
I92	3	0.803	0.919
M31	3	0.798	0.798
L100	3	0.796	0.847
K103	3	0.787	0.794
V124	3	0.769	0.919

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Rectum Adenocarcinoma (validation)	favorable	1.44e-07

Disease associations

OMIM: gene MIM:607471 | disease phenotypes:

GWAS associations

5 associations:

Study	Trait	p-value
GCST008871_14	Basal cell carcinoma	5e-17
GCST90013410_70	Basal cell carcinoma	2e-16
GCST008870_31	Keratinocyte cancer (MTAG)	2e-13
GCST007637_54	Diffusing capacity of carbon monoxide	5e-6
GCST003487_1	Response to fenofibrate (total cholesterol levels)	7e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0007806	total cholesterol change measurement
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0010176	keratinocyte carcinoma

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression	3
Benzo(a)pyrene	affects methylation	2
Aflatoxin B1	affects methylation, increases methylation	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases expression	1
trichostatin A	affects expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
mesotrione	affects methylation, increases abundance	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	increases expression	1
Cannabinoids	affects methylation, increases abundance	1
Carbamazepine	affects expression	1
Cisplatin	affects response to substance	1
Cytarabine	decreases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Fluorouracil	affects response to substance	1
Formaldehyde	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.