GPATCH4

Summary

GPATCH4 (G-patch domain containing 4 (gene/pseudogene), HGNC:25982) is a protein-coding gene on chromosome 1q22-q23.1, encoding G patch domain-containing protein 4 (Q5T3I0).

Enables RNA binding activity. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be active in nucleolus.

Source: NCBI Gene 54865 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Clinical variants (ClinVar): 68 total — 1 pathogenic
• Regional missense constraint (gnomAD): 1 of 3 regions constrained (≈5% of expected missense variation)
• GTEx eGene: eQTL in 35 tissues, sQTL in 18 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.67 (unconstrained)
• Notable: 68 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25982
Approved symbol	GPATCH4
Name	G-patch domain containing 4 (gene/pseudogene)
Location	1q22-q23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20249, DKFZP434F1735
Ensembl gene	ENSG00000160818
Ensembl biotype	protein_coding
Entrez	54865

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 retained_intron, 3 protein_coding_LoF, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 5, TSL 3: 5, TSL 4: 1, TSL 5: 3

ENST00000368232, ENST00000415314, ENST00000438976, ENST00000463513, ENST00000473910, ENST00000474904, ENST00000494414, ENST00000497287, ENST00000498641, ENST00000498756, ENST00000506832, ENST00000525375, ENST00000527691, ENST00000531129, ENST00000531900

RefSeq mRNA: 2 NM_015590, NM_182679

Canonical transcript exons

ENST00000368232 — 8 exons

Exon	Start	End
ENSE00001861395	156601409	156601479
ENSE00001956829	156594301	156595849
ENSE00003545923	156596081	156596131
ENSE00003574142	156596387	156596478
ENSE00003594841	156598968	156599104
ENSE00003609278	156598227	156598319
ENSE00003610106	156598035	156598121
ENSE00003665803	156598421	156598494

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 95.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.9495 / max 602.8518, expressed in 1785 samples.

Highest expression (Bgee): gastrocnemius, muscle of leg, sural nerve, tibialis anterior, C1 segment of cervical spinal cord.

Genetic regulation across tissues (GTEx eQTL / sQTL)

GPATCH4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 35 tissues and its splicing (sQTL) in 18 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 53 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	eqtl	3.5e-25	-0.39	1:156596604:G:C
Brain Frontal Cortex BA9	eqtl	2.3e-17	-0.68	1:156593649:G:A
Brain Cortex	eqtl	1.6e-11	-0.60	1:156583439:GC:G
Brain Hypothalamus	eqtl	2.0e-11	-0.59	1:156516817:C:T
Esophagus Muscularis	eqtl	3.9e-10	-0.31	1:156594785:A:G
Nerve Tibial	sqtl	5.6e-10	+1.05	1:156593649:G:A
Brain Putamen basal ganglia	eqtl	6.3e-10	-0.80	1:156583439:GC:G
Brain Nucleus accumbens basal ganglia	eqtl	6.6e-10	-0.56	1:156593649:G:A
Cells Cultured fibroblasts	eqtl	3.9e-09	+0.16	1:156590769:T:C
Muscle Skeletal	sqtl	6.9e-09	+0.79	1:156525847:C:T
Brain Anterior cingulate cortex BA24	eqtl	7.2e-09	-0.67	1:156626617:C:T
Esophagus Mucosa	eqtl	1.5e-07	-0.27	1:156594785:A:G
Brain Cerebellar Hemisphere	eqtl	2.8e-07	-0.53	1:156593649:G:A
Cells EBV-transformed lymphocytes	sqtl	7.8e-07	+1.10	1:156593649:G:A
Skin Sun Exposed Lower leg	eqtl	2.0e-06	+0.15	1:156590832:C:T
Brain Caudate basal ganglia	eqtl	2.7e-06	+0.43	1:156625974:C:CAGG
Testis	eqtl	4.2e-06	-0.62	1:156594785:A:G
Brain Frontal Cortex BA9	sqtl	4.4e-06	+1.02	1:156583439:GC:G
Artery Tibial	eqtl	8.0e-06	-0.29	1:156594785:A:G
Brain Cerebellum	eqtl	2.1e-05	-0.49	1:156593649:G:A

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
15156	15.5124	1774
15154	3.0961	1148
15155	0.3410	161

Top tissues by expression

showing 100 of 255 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	95.09	gold quality
muscle of leg	UBERON:0001383	94.21	gold quality
sural nerve	UBERON:0015488	94.19	gold quality
tibialis anterior	UBERON:0001385	93.56	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.36	gold quality
islet of Langerhans	UBERON:0000006	93.07	gold quality
anterior cingulate cortex	UBERON:0009835	92.99	gold quality
prefrontal cortex	UBERON:0000451	92.38	gold quality
right frontal lobe	UBERON:0002810	92.38	gold quality
putamen	UBERON:0001874	91.82	gold quality
amygdala	UBERON:0001876	91.80	gold quality
spinal cord	UBERON:0002240	91.60	gold quality
tendon of biceps brachii	UBERON:0008188	91.57	gold quality
nucleus accumbens	UBERON:0001882	91.52	gold quality
hypothalamus	UBERON:0001898	91.47	gold quality
deltoid	UBERON:0001476	91.35	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.22	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.09	gold quality
substantia nigra	UBERON:0002038	91.07	gold quality
secondary oocyte	CL:0000655	90.94	gold quality
left uterine tube	UBERON:0001303	90.73	gold quality
neocortex	UBERON:0001950	90.60	gold quality
frontal cortex	UBERON:0001870	90.48	gold quality
caudate nucleus	UBERON:0001873	90.39	gold quality
heart left ventricle	UBERON:0002084	90.30	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.20	gold quality
vermiform appendix	UBERON:0001154	90.17	gold quality
cardiac ventricle	UBERON:0002082	90.01	gold quality
oocyte	CL:0000023	89.89	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.86	gold quality
lower esophagus	UBERON:0013473	89.84	gold quality
midbrain	UBERON:0001891	89.76	gold quality
pancreas	UBERON:0001264	89.52	gold quality
smooth muscle tissue	UBERON:0001135	89.33	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.11	gold quality
cerebral cortex	UBERON:0000956	89.08	gold quality
cerebellar hemisphere	UBERON:0002245	88.98	gold quality
cerebellar cortex	UBERON:0002129	88.92	gold quality
esophagus	UBERON:0001043	88.86	gold quality
skeletal muscle tissue	UBERON:0001134	88.85	gold quality
forebrain	UBERON:0001890	88.81	gold quality
apex of heart	UBERON:0002098	88.75	gold quality
cortical plate	UBERON:0005343	88.74	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.65	gold quality
brain	UBERON:0000955	88.55	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.54	gold quality
left adrenal gland cortex	UBERON:0035825	88.53	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.50	gold quality
left adrenal gland	UBERON:0001234	88.40	gold quality
mucosa of transverse colon	UBERON:0004991	88.39	gold quality
body of pancreas	UBERON:0001150	88.31	gold quality
heart	UBERON:0000948	88.25	gold quality
body of stomach	UBERON:0001161	88.23	gold quality
caecum	UBERON:0001153	88.22	gold quality
substantia nigra pars reticulata	UBERON:0001966	88.22	gold quality
esophagus mucosa	UBERON:0002469	88.18	gold quality
peritoneum	UBERON:0002358	88.09	gold quality
omental fat pad	UBERON:0010414	88.08	gold quality
body of uterus	UBERON:0009853	88.04	gold quality
right atrium auricular region	UBERON:0006631	87.97	gold quality
adrenal cortex	UBERON:0001235	87.95	gold quality
Ammon’s horn	UBERON:0001954	87.94	gold quality
substantia nigra pars compacta	UBERON:0001965	87.90	gold quality
kidney epithelium	UBERON:0004819	87.87	silver quality
right adrenal gland	UBERON:0001233	87.86	gold quality
muscle tissue	UBERON:0002385	87.86	gold quality
cerebellum	UBERON:0002037	87.83	gold quality
right adrenal gland cortex	UBERON:0035827	87.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.74	gold quality
tibial artery	UBERON:0007610	87.70	gold quality
popliteal artery	UBERON:0002250	87.69	gold quality
colonic epithelium	UBERON:0000397	87.59	gold quality
tibial nerve	UBERON:0001323	87.51	gold quality
pericardium	UBERON:0002407	87.50	gold quality
middle temporal gyrus	UBERON:0002771	87.49	gold quality
lymph node	UBERON:0000029	87.47	gold quality
left coronary artery	UBERON:0001626	87.47	gold quality
adrenal gland	UBERON:0002369	87.46	gold quality
epithelial cell of pancreas	CL:0000083	87.41	silver quality
adipose tissue of abdominal region	UBERON:0007808	87.39	gold quality
prostate gland	UBERON:0002367	87.28	gold quality
coronary artery	UBERON:0001621	87.27	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.23	gold quality
cardiac atrium	UBERON:0002081	87.22	gold quality
temporal lobe	UBERON:0001871	87.10	gold quality
rectum	UBERON:0001052	87.02	gold quality
metanephros cortex	UBERON:0010533	87.02	gold quality
stomach	UBERON:0000945	86.94	gold quality
aorta	UBERON:0000947	86.78	gold quality
transverse colon	UBERON:0001157	86.78	gold quality
right lobe of thyroid gland	UBERON:0001119	86.61	gold quality
upper lobe of left lung	UBERON:0008952	86.61	gold quality
ectocervix	UBERON:0012249	86.55	gold quality
quadriceps femoris	UBERON:0001377	86.50	gold quality
right ovary	UBERON:0002118	86.47	gold quality
left ovary	UBERON:0002119	86.42	gold quality
colon	UBERON:0001155	86.39	gold quality
anatomical system	UBERON:0000467	86.33	gold quality
minor salivary gland	UBERON:0001830	86.32	gold quality
left lobe of thyroid gland	UBERON:0001120	86.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.92
E-MTAB-7606	no	616.96

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Skeletal muscle	tissue	30.3	medium
Tongue	tissue	26.1
Postcentral gyrus	tissue	24.8
Caudate putamen	tissue	20.2
Urinary bladder	tissue	17.8	medium
Frontal cortex	tissue	17.5
Tonsil	tissue	17.5	low
Appendix	tissue	15.5	medium
Adipose tissue	tissue	15.2	not detected
Lymph node	tissue	14.9	not detected
Parathyroid gland	tissue	14.3	high
Smooth muscle	tissue	12.9	medium
Vagina	tissue	12.8	low
Liver	tissue	12.8	medium
Hippocampus	tissue	12.6	medium
Breast	tissue	12.4	low
Locus coeruleus	tissue	12.3
Nucleus accumbens	tissue	12.2
Rectum	tissue	12.1	high
Pancreas	tissue	11.4	medium
Adrenal gland	tissue	11.1	medium
Colon	tissue	10.8	medium
Prefrontal cortex	tissue	10.6
Cerebral cortex	tissue	10.6	medium
Thymus	tissue	10.4
Motor cortex	tissue	10.3
Putamen	tissue	10.0
Prostate	tissue	10.0	low
Esophagus	tissue	9.9	medium
Stomach 1	tissue	9.8	medium
Seminal vesicle	tissue	9.7	high
Skin 1	tissue	9.6	low
Salivary gland	tissue	9.6	not detected
Spleen	tissue	9.6	not detected
Kidney	tissue	9.6	medium
Bone marrow	tissue	9.4	low
Occipital cortex	tissue	9.1
Endometrium 1	tissue	9.0	low
Fallopian tube	tissue	9.0	medium
Somatosensory cortex	tissue	8.9
Temporal cortex	tissue	8.8
Placenta	tissue	8.7	medium
Thyroid gland	tissue	8.6	high
Hippocampal formation	tissue	8.6
Entorhinal cortex	tissue	8.6
Epididymis	tissue	8.5	medium
Basal ganglia	tissue	8.4	low
Retrosplenial and cingulate cortex	tissue	8.4
Insular cortex	tissue	8.4
Retrosplenial cortex	tissue	8.3
Duodenum	tissue	8.1	medium
Ventral forebrain	tissue	8.1
Testis	tissue	8.0	medium
Small intestine	tissue	8.0	medium
Pituitary gland	tissue	7.8
Amygdala	tissue	7.8
Heart muscle	tissue	7.7	low
Pons	tissue	7.7
Septum	tissue	7.7
Ovary	tissue	7.5	low

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Somatomor cortex, precentral gyrus (white matter) (20.1), Paracentral lobule, anterior (19.8), Somatosensory cortex, postcentral gyrus, ventral (white matter) (19.3), Orbitofrontal gyrus, anterior (18.9), Median raphe nucleus (18.2).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 2.21e-08, LOEUF 1.67, missense Z 1.17 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000368232 splits into 3 regions with different missense tolerance; 1 is missense-constrained (≈5% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
1:156,595,216–156,598,106	307 / 337.1	0.91	no
1:156,598,107–156,598,260	4 / 20.2	0.20	yes (p 3.2e-04)
1:156,598,261–156,599,046	68 / 85.6	0.79	no

Literature-anchored findings (GeneRIF, showing 3)

• G-patch domain-containing protein 4 localizes to both the nucleoli and Cajal bodies and regulates cell growth and nucleolar structure. (PMID:33933995)
• GPATCH4 regulates rRNA and snRNA 2’-O-methylation in both DHX15-dependent and DHX15-independent manners. (PMID:38113271)
• GPATCH4 contributes to nucleolus morphology and its dysfunction impairs cell viability. (PMID:38113722)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gpatch4	ENSDARG00000091931
mus_musculus	Gpatch4	ENSMUSG00000028069
rattus_norvegicus	Gpatch4	ENSRNOG00000018969
drosophila_melanogaster	CG15561	FBGN0039829

Paralogs (1): PINX1 (ENSG00000254093)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1913864) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 13 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal spleen morphology	1
small spleen	1
small seminal vesicle	1
decreased locomotor activity	1
abnormal seminal vesicle morphology	1
abnormal coat/hair pigmentation	1
decreased mean corpuscular volume	1
decreased lean body mass	1
immune system phenotype	1
decreased mean corpuscular hemoglobin	1
decreased CD8-positive, alpha-beta T cell number	1
increased fasting circulating glucose level	1
increased freezing behavior	1

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
Xenopus tropicalis	Q6P859	85.2%	Diamond
Xenopus laevis	Q4V842	84.9%	Diamond
Bos taurus	Q2KJE1	78.1%	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
NES	protein-coding	10763
BCAN-AS2	ncRNA	126568844
NAXE	protein-coding	128240
HAPLN2	protein-coding	60484
BCAN	protein-coding	63827
CRABP2	protein-coding	1382
IQGAP3	protein-coding	128239
TTC24	protein-coding	164118
MEF2D	protein-coding	4209

Protein

Protein identifiers

G patch domain-containing protein 4 — Q5T3I0 (reviewed: Q5T3I0)

All UniProt accessions (6): A0A0A0MRK1, A0AA34QVU8, E9PAV9, E9PPY4, F2Z3C6, F8W895

UniProt curated annotations — full annotation on UniProt →

Polymorphism. This gene contains polymorphic substitutions in the last exon causing a frameshift variant C-terminal sequence compared to the official human genome. However, this variant sequence is in agreement with ortholog sequences.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5T3I0-1	1	yes
Q5T3I0-2	2
Q5T3I0-3	3

RefSeq proteins (2): NP_056405, NP_872620 (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000467	G_patch_dom	Domain
IPR050656	PINX1	Family

Pfam: PF01585

UniProt features (24 total): compositionally biased region 8, modified residue 6, splice variant 4, region of interest 2, chain 1, domain 1, cross-link 1, coiled-coil region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T3I0-F1	57.52	0.12

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoli; nucleoplasm

Antibody reliability (HPA): IH approved · IF enhanced

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 (7)

Type	Positions
N-acetylmethionine	1
Phosphothreonine	4, 116
Phosphoserine	128, 130, 139
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2)	46

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: 151 (showing top): CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, WANG_LMO4_TARGETS_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, YY1_02, GARY_CD5_TARGETS_DN, FISCHER_DREAM_TARGETS, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, NUYTTEN_EZH2_TARGETS_DN, GOCC_NUCLEOLUS, STAT5A_01, MATSUDA_NATURAL_KILLER_DIFFERENTIATION, ATGAAGG_MIR205, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, KOYAMA_SEMA3B_TARGETS_DN

GO Molecular Function (2): RNA binding (GO:0003723), nucleic acid binding (GO:0003676)

GO Cellular Component (1): nucleolus (GO:0005730)

GO top-level categories

4 GO namespaces:

Category	Terms
nucleic acid binding	1
binding	1
nuclear lumen	1
intracellular membraneless organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 3 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
RNA binding	MF	high-throughput assay

Protein interactions and networks

STRING

showing 15 of 1,388 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPATCH4	TMEM52	Q8NDY8	567
GPATCH4	SINHCAF	Q9NP50	453
GPATCH4	RP1L1	Q8IWN7	438
GPATCH4	NXPH4	O95158	424
GPATCH4	MYBBP1A	Q9BQG0	413
GPATCH4	RPL36	Q9Y3U8	410
GPATCH4	TBCB	Q99426	399
GPATCH4	SAXO5	Q8NA69	395
GPATCH4	CFAP45	Q9UL16	387
GPATCH4	MAGIX	Q9H6Y5	384
GPATCH4	NUFIP2	Q7Z417	378
GPATCH4	ZNF250	P15622	378
GPATCH4	PEAR1	Q5VY43	370
GPATCH4	STEAP2	Q8NFT2	362
GPATCH4	PELI2	Q9HAT8	357

IntAct

Human interaction partners of GPATCH4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
CEP70	physical association	0.720	6
KASH5	physical association	0.720	6

Disease & clinical

Genetic variants

Variant evidence for GPATCH4: 68 ClinVar records (1 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	54
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
2427315	NC_000001.10:g.(?156554669)(156568838_?)del	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore GPATCH4’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 36 predictions of 663):

Position(s)	Effect	Δscore	Sites
1:156598225–156598226	donor_loss	1.0000	5
1:156598320–156598321	acceptor_loss	1.0000	6
1:156598324	acceptor_gain	1.0000
1:156601407–156601408	donor_loss	1.0000	4
1:156595850–156595851	acceptor_loss	0.9900	6
1:156596388	donor_gain	0.9900
1:156598122–156598123	acceptor_loss	0.9900	5
1:156598229	donor_gain	0.9900
1:156598325	acceptor_gain	0.9900
1:156598419–156598420	donor_loss	0.9900	6

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Chromophobe (TCGA)	unfavorable	2.39e-05
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	3.73e-05

Disease associations

OMIM: gene `` | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression, increases methylation, affects cotreatment	6
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Estradiol	affects expression, increases expression	3
(+)-JQ1 compound	affects expression, decreases expression	2
Arsenic	affects cotreatment, increases abundance, increases expression	2
Nickel	increases expression	2
Tretinoin	decreases expression	2
GSK-J4	decreases expression	1
afuresertib	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
TL8-506	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
arsenite	increases methylation	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
potassium chromate(VI)	affects cotreatment, increases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, increases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Irinotecan	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases 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_B2Y3	Abcam HEK293T GPATCH4 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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