ARHGEF10L

Summary

ARHGEF10L (Rho guanine nucleotide exchange factor 10 like, HGNC:25540) is a protein-coding gene on chromosome 1p36.13, encoding Rho guanine nucleotide exchange factor 10-like protein (Q9HCE6). Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.

This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55160 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 253 total — 1 likely-pathogenic
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 2 cancer types
• MANE Select transcript: NM_018125

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25540
Approved symbol	ARHGEF10L
Name	Rho guanine nucleotide exchange factor 10 like
Location	1p36.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10521, KIAA1626
Ensembl gene	ENSG00000074964
Ensembl biotype	protein_coding
OMIM	612494
Entrez	55160

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 29 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000167825, ENST00000361221, ENST00000375408, ENST00000375415, ENST00000466782, ENST00000469726, ENST00000482359, ENST00000482892, ENST00000495593, ENST00000875003, ENST00000875004, ENST00000875005, ENST00000875006, ENST00000933926, ENST00000933927, ENST00000933928, ENST00000933929, ENST00000933930, ENST00000933931, ENST00000933932, ENST00000933933, ENST00000933934, ENST00000970699, ENST00000970700, ENST00000970701, ENST00000970702, ENST00000970703, ENST00000970704, ENST00000970705, ENST00000970706, ENST00000970707, ENST00000970708, ENST00000970709, ENST00000970710, ENST00000970711

RefSeq mRNA: 5 — MANE Select: NM_018125 NM_001011722, NM_001319837, NM_001319838, NM_001328124, NM_018125

CCDS: CCDS182, CCDS30617

Canonical transcript exons

ENST00000361221 — 29 exons

Exon	Start	End
ENSE00000896633	17613058	17613174
ENSE00000896634	17616094	17616202
ENSE00001161931	17587460	17587645
ENSE00001162086	17580553	17580632
ENSE00001182858	17588446	17588479
ENSE00001267745	17539698	17539950
ENSE00001755595	17634548	17634562
ENSE00001954969	17696848	17697869
ENSE00003460282	17695158	17695280
ENSE00003461835	17634835	17635016
ENSE00003468102	17656554	17656708
ENSE00003493681	17624387	17624503
ENSE00003503885	17619339	17619445
ENSE00003505774	17621864	17621941
ENSE00003506428	17687573	17687747
ENSE00003507371	17655879	17656102
ENSE00003548497	17603508	17603591
ENSE00003583343	17627330	17627503
ENSE00003599477	17622996	17623175
ENSE00003607478	17664447	17664595
ENSE00003631164	17648554	17648675
ENSE00003641913	17625956	17626048
ENSE00003649194	17602127	17602218
ENSE00003650063	17637888	17638003
ENSE00003654161	17632321	17632466
ENSE00003669483	17640202	17640302
ENSE00003670661	17607802	17607977
ENSE00003678534	17654636	17654722
ENSE00003685080	17638562	17638689

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 98.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.0721 / max 182.0700, expressed in 1585 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
997	5.4400	1471
1006	1.5746	294
1007	1.0178	348
1000	0.6878	64
1003	0.4485	228
998	0.3793	203
1001	0.3072	62
1008	0.2823	115
996	0.2519	128
1005	0.2017	120

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	98.19	gold quality
cerebellar cortex	UBERON:0002129	98.15	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.09	gold quality
right lobe of liver	UBERON:0001114	98.08	gold quality
popliteal artery	UBERON:0002250	97.95	gold quality
tibial artery	UBERON:0007610	97.95	gold quality
aorta	UBERON:0000947	97.83	gold quality
right coronary artery	UBERON:0001625	97.82	gold quality
ascending aorta	UBERON:0001496	97.78	gold quality
thoracic aorta	UBERON:0001515	97.77	gold quality
descending thoracic aorta	UBERON:0002345	97.60	gold quality
cerebellum	UBERON:0002037	97.43	gold quality
metanephros cortex	UBERON:0010533	97.05	gold quality
left coronary artery	UBERON:0001626	96.51	gold quality
mucosa of stomach	UBERON:0001199	96.45	gold quality
body of pancreas	UBERON:0001150	96.21	gold quality
lower esophagus mucosa	UBERON:0035834	96.20	gold quality
coronary artery	UBERON:0001621	96.11	gold quality
apex of heart	UBERON:0002098	95.87	gold quality
skin of leg	UBERON:0001511	95.67	gold quality
transverse colon	UBERON:0001157	94.99	gold quality
skin of abdomen	UBERON:0001416	94.82	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.74	gold quality
mucosa of transverse colon	UBERON:0004991	94.29	gold quality
gastrocnemius	UBERON:0001388	94.24	gold quality
lower esophagus	UBERON:0013473	94.16	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.16	gold quality
ectocervix	UBERON:0012249	93.99	gold quality
muscle of leg	UBERON:0001383	93.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting ARHGEF10L, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4692	100.00	67.32	2066
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-532-3P	99.34	65.76	1195

Literature-anchored findings (GeneRIF, showing 4)

• In intact cells, GrinchGEF induced specifically Rho activation and enhanced RhoA-C-specific downstream effects. (PMID:16112081)
• Inherited variants in ARHGEF10L and AKAP6, with potential transcriptional regulatory function and association with Epithelial ovarian cancer risk, warrant investigation in independent Epithelial ovarian cancer study populations. (PMID:29979793)
• increased expression of ARHGEF10L stimulates hepatocellular tumorigenesis by activating the RhoA-ROCK1- phospho Ezrin/Radixin/Moesin pathway and epithelial-mesenchymal transition. (PMID:30444969)
• ARHGEF10L expression regulates cell proliferation and migration in gastric tumorigenesis. (PMID:32154766)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgef10lb	ENSDARG00000074244
danio_rerio	arhgef10la	ENSDARG00000088630
mus_musculus	Arhgef10l	ENSMUSG00000040964
rattus_norvegicus	Arhgef10l	ENSRNOG00000050636
drosophila_melanogaster	CG43658	FBGN0263706

Paralogs (2): ARHGEF10 (ENSG00000104728), ARHGEF17 (ENSG00000110237)

Protein

Protein identifiers

Rho guanine nucleotide exchange factor 10-like protein — Q9HCE6 (reviewed: Q9HCE6)

Alternative names: GrinchGEF

All UniProt accessions (3): Q9HCE6, A0A384DVK7, Q5VXI4

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.

Subunit / interactions. Interacts with RHOA, RHOB and RHOC.

Subcellular location. Cytoplasm.

Tissue specificity. Detected in heart, liver, skeletal muscle, kidney and pancreas.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9HCE6-1	1	yes
Q9HCE6-2	2
Q9HCE6-3	3
Q9HCE6-4	4
Q9HCE6-5	5

RefSeq proteins (5): NP_001011722, NP_001306766, NP_001306767, NP_001315053, NP_060595* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR039919	ARHGEF10/ARHGEF17	Family

Pfam: PF00621, PF19056, PF19057

UniProt features (29 total): splice variant 7, sequence variant 5, modified residue 4, region of interest 4, compositionally biased region 4, sequence conflict 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCE6-F1	67.46	0.33

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 (4): 40, 131, 152, 281

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-193648	NRAGE signals death through JNK
R-HSA-416482	G alpha (12/13) signalling events
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-193704	p75 NTR receptor-mediated signalling
R-HSA-194315	Signaling by Rho GTPases
R-HSA-204998	Cell death signalling via NRAGE, NRIF and NADE
R-HSA-372790	Signaling by GPCR
R-HSA-388396	GPCR downstream signalling
R-HSA-73887	Death Receptor Signaling
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 141 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, NKX25_02, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_ER_NUCLEUS_SIGNALING_PATHWAY, GATA6_01, GOBP_ACTIN_FILAMENT_ORGANIZATION, HEN1_01, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION

GO Biological Process (4): actin cytoskeleton organization (GO:0030036), SREBP signaling pathway (GO:0032933), regulation of small GTPase mediated signal transduction (GO:0051056), positive regulation of stress fiber assembly (GO:0051496)

GO Molecular Function (3): guanyl-nucleotide exchange factor activity (GO:0005085), GTPase activator activity (GO:0005096), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
RHO GTPase cycle	3
Signal Transduction	3
Cell death signalling via NRAGE, NRIF and NADE	1
GPCR downstream signalling	1
Death Receptor Signaling	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
p75 NTR receptor-mediated signalling	1
Signaling by GPCR	1
Signaling by Rho GTPases	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase regulator activity	2
cellular anatomical structure	2
cytoskeleton organization	1
actin filament-based process	1
ER-nucleus signaling pathway	1
cellular response to sterol depletion	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
positive regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of stress fiber assembly	1
GTP binding	1
GDP binding	1
GTPase activity	1
enzyme activator activity	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGEF10L	LSM14B	Q9BX40	596
ARHGEF10L	RABIF	P47224	551
ARHGEF10L	RBM28	Q9NW13	537
ARHGEF10L	RHOA	P06749	530
ARHGEF10L	RESF1	Q9HCM1	519
ARHGEF10L	ESRP2	Q9H6T0	506
ARHGEF10L	MYO1B	O43795	493
ARHGEF10L	CDC42	P21181	478
ARHGEF10L	SLAIN2	Q9P270	474
ARHGEF10L	MORN5	Q5VZ52	456
ARHGEF10L	ARHGEF19	Q8IW93	450
ARHGEF10L	DPYSL4	O14531	434
ARHGEF10L	AFMID	Q63HM1	431
ARHGEF10L	RIBC1	Q8N443	429
ARHGEF10L	SCNM1	Q9BWG6	427

IntAct

17 interactions, top by confidence:

A	B	Type	Score
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
	ARHGEF10L	psi-mi:“MI:0915”(physical association)	0.370
ARHGEF10	S100A8	psi-mi:“MI:0914”(association)	0.350
ARHGEF10L	MCM7	psi-mi:“MI:0914”(association)	0.350
	SDCBP	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
OR2A4	A2ML1	psi-mi:“MI:0914”(association)	0.350
ARHGEF10L	ARHGEF10	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
ARHGEF10L	WASL	psi-mi:“MI:0914”(association)	0.350
ARHGEF10L	SOWAHC	psi-mi:“MI:0914”(association)	0.350
ARHGEF10L	ANXA9	psi-mi:“MI:0915”(physical association)	0.000
ARHGEF10L	DRAP1	psi-mi:“MI:0915”(physical association)	0.000
ARHGEF10L	NR4A1	psi-mi:“MI:0915”(physical association)	0.000
ARHGEF10L	SCN2A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (62): ARHGEF10L (Affinity Capture-MS), ARCN1 (Affinity Capture-MS), DDX19B (Affinity Capture-MS), MCM7 (Affinity Capture-MS), RPS27A (Affinity Capture-MS), SRGAP1 (Affinity Capture-MS), UBAP2L (Affinity Capture-MS), ADAR (Affinity Capture-MS), ANXA5 (Affinity Capture-MS), ATP5C1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), CAND1 (Affinity Capture-MS), CDK9 (Affinity Capture-MS), CFL1 (Affinity Capture-MS), CHCHD3 (Affinity Capture-MS)

ESM2 similar proteins: A0A0B4J1F4, A0A0G2JXN2, A2AWP8, A2RRH5, C9J798, O43374, O70277, O95294, P04629, P59926, Q0GA42, Q13368, Q14318, Q16512, Q29RM4, Q2HY40, Q2T9P3, Q2TBA3, Q5BIM1, Q5M7W1, Q5R5M3, Q5R811, Q5T7P8, Q5XIS9, Q62746, Q6PFQ7, Q6PFY8, Q7TNM2, Q7TP90, Q7Z4K8, Q8BG60, Q8BHT7, Q8BQC3, Q8C6N3, Q8CIW5, Q8IZ69, Q8NCT1, Q920N2, Q92546, Q925B4

Diamond homologs: A2AWP8, E9PSK7, O15013, P34609, P52734, P98174, Q07139, Q1ZXH8, Q29RM4, Q58A65, Q5R5M3, Q8C033, Q9ESN9, Q9H8V3, Q9HCE6, Q9UPT6, O60271, Q29EP6, Q80U35, Q9GQF1, Q5JSP0, Q5R5T1, Q8BY35, A0JMD2, A8XJZ8, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D4A8G9, E1BLZ4, E9Q4P1

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

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

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	181
Likely benign	10
Benign	8

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
224809	NM_018125.4(ARHGEF10L):c.3646G>A (p.Asp1216Asn)	Likely pathogenic

SpliceAI

5837 predictions. Top by Δscore:

Variant	Effect	Δscore
1:17539951:GTGG:G	donor_gain	1.0000
1:17539953:GG:G	donor_gain	1.0000
1:17539954:GG:G	donor_gain	1.0000
1:17587458:A:AT	acceptor_loss	1.0000
1:17587459:GGA:G	acceptor_gain	1.0000
1:17587642:ACTGG:A	donor_loss	1.0000
1:17587643:CTGG:C	donor_loss	1.0000
1:17587644:TGGTA:T	donor_loss	1.0000
1:17587646:G:C	donor_loss	1.0000
1:17587646:G:GG	donor_gain	1.0000
1:17587647:T:A	donor_loss	1.0000
1:17588443:CAGA:C	acceptor_loss	1.0000
1:17588444:A:AG	acceptor_gain	1.0000
1:17588445:G:GG	acceptor_gain	1.0000
1:17588445:GA:G	acceptor_gain	1.0000
1:17588445:GAC:G	acceptor_gain	1.0000
1:17588445:GACCC:G	acceptor_gain	1.0000
1:17588475:ACAGG:A	donor_gain	1.0000
1:17588476:CAGG:C	donor_gain	1.0000
1:17588477:AGG:A	donor_gain	1.0000
1:17588478:GG:G	donor_gain	1.0000
1:17588478:GGG:G	donor_gain	1.0000
1:17588478:GGGT:G	donor_loss	1.0000
1:17588479:GG:G	donor_gain	1.0000
1:17588480:G:GG	donor_gain	1.0000
1:17588481:T:A	donor_loss	1.0000
1:17602216:GCA:G	donor_gain	1.0000
1:17602219:G:GG	donor_gain	1.0000
1:17616089:CTCA:C	acceptor_loss	1.0000
1:17616090:TCAG:T	acceptor_loss	1.0000

AlphaMissense

8375 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:17621874:G:C	R318T	1.000
1:17621874:G:T	R318M	1.000
1:17621892:T:A	I324N	1.000
1:17623111:C:A	A379D	1.000
1:17623114:T:C	L380P	1.000
1:17623134:T:A	W387R	1.000
1:17623134:T:C	W387R	1.000
1:17623135:G:C	W387S	1.000
1:17623136:G:C	W387C	1.000
1:17623136:G:T	W387C	1.000
1:17623155:G:A	G394R	1.000
1:17623155:G:C	G394R	1.000
1:17623155:G:T	G394W	1.000
1:17623156:G:A	G394E	1.000
1:17623156:G:T	G394V	1.000
1:17623165:T:C	F397S	1.000
1:17624499:T:C	L438P	1.000
1:17625999:T:C	L454P	1.000
1:17626011:C:A	P458H	1.000
1:17626011:C:G	P458R	1.000
1:17626020:G:C	R461T	1.000
1:17626020:G:T	R461M	1.000
1:17626021:G:C	R461S	1.000
1:17626021:G:T	R461S	1.000
1:17626023:T:C	F462S	1.000
1:17626032:T:C	F465S	1.000
1:17626035:T:A	I466K	1.000
1:17626041:T:C	L468P	1.000
1:17626044:T:A	L469H	1.000
1:17626044:T:C	L469P	1.000

dbSNP variants (sampled 300 via entrez): RS1000017596 (1:17535475 G>A), RS1000022704 (1:17539220 G>C), RS1000025123 (1:17607181 G>A), RS1000035039 (1:17606995 G>A), RS1000049996 (1:17522049 A>G), RS1000068887 (1:17644588 G>A,T), RS1000070151 (1:17679254 C>T), RS1000093850 (1:17531181 G>C), RS1000097771 (1:17551604 G>A,T), RS1000100227 (1:17522210 G>A), RS1000106735 (1:17629713 C>A,G,T), RS1000107791 (1:17655464 C>T), RS1000141468 (1:17516335 C>T), RS1000143984 (1:17519049 C>T), RS1000147340 (1:17682007 C>G,T)

Disease associations

OMIM: gene MIM:612494 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): teratoma (MONDO:0002601)

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000249_1	Basal cell carcinoma	4.000000e-12
GCST001325_8	Response to hepatitis C treatment	3.000000e-06
GCST001762_393	Obesity-related traits	3.000000e-06
GCST003981_1	Insomnia	3.000000e-07
GCST005026_1	Initial pursuit acceleration in psychotic disorders	3.000000e-07
GCST012305_19	Major depressive disorder x sex interaction	9.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0007876	insomnia measurement
EFO:0008434	initial pursuit acceleration
EFO:0008343	sex interaction measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D013724	Teratoma	C04.557.465.910

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
Cyclosporine	decreases methylation, decreases expression	3
sodium arsenite	affects methylation, increases expression	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
butyraldehyde	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
bisphenol S	decreases methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	decreases expression	1
Amiodarone	increases expression	1
Arsenic	affects methylation	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00104676	PHASE3	COMPLETED	Combination Chemotherapy in Treating Patients With Stage II or Stage III Germ Cell Tumors
NCT02375204	PHASE3	ACTIVE_NOT_RECRUITING	Standard-Dose Combination Chemotherapy or High-Dose Combination Chemotherapy and Stem Cell Transplant in Treating Patients with Relapsed or Refractory Germ Cell Tumors
NCT00002931	PHASE2	COMPLETED	Combination Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Relapsed Germ Cell Cancer
NCT00301782	PHASE2	COMPLETED	Combination Chemotherapy in Treating Male Patients With Germ Cell Tumors
NCT00432094	PHASE2	COMPLETED	Autologous Peripheral Blood Stem Cell Transplant for Germ Cell Tumors
NCT00453232	PHASE2	COMPLETED	Combination Chemotherapy and Pegfilgrastim in Treating Men With Metastatic Germ Cell Tumors
NCT00453310	PHASE2	COMPLETED	Sunitinib in Treating Patients With Metastatic Germ Cell Tumors That Have Relapsed or Not Responded to Treatment
NCT00470366	PHASE2	COMPLETED	Combination Chemotherapy and Pegfilgrastim in Treating Patients With Previously Untreated Germ Cell Tumors
NCT02300987	PHASE2	COMPLETED	A Randomized, Blinded, Placebo-controlled, Phase II Trial of LEE011 in Patients With Relapsed, Refractory, Incurable Teratoma With Recent Progression
NCT00003643	PHASE2/PHASE3	UNKNOWN	Combination Chemotherapy in Treating Men With Germ Cell Cancer
NCT00423852	PHASE1/PHASE2	COMPLETED	Paclitaxel, Ifosfamide, and Carboplatin Followed By Autologous Stem Cell Transplant in Treating Patients With Germ Cell Tumors That Did Not Respond to Cisplatin
NCT00687778	Not specified	UNKNOWN	11C-Acetate PET/CT Non-FDG-Avid Tumors
NCT00836121	Not specified	COMPLETED	Anterior Mediastinum Teratoma: A Case Report
NCT05179850	Not specified	UNKNOWN	Computer Aided Diagnostic Tool on Computed Tomography Images for Diagnosis of Retroperitoneal Tumor in Children
NCT05187923	Not specified	UNKNOWN	Computer Aided Tool for Diagnosis of Neck Masses in Children
NCT05564026	Not specified	RECRUITING	Molecular Epidemiology of Pediatric Germ Cell Tumors
NCT06421805	Not specified	RECRUITING	Establishing Prospective Mediastinal Tumor Database of PUMCH
NCT07199699	Not specified	NOT_YET_RECRUITING	Subxiphoid VATS for Giant Mediastinal Teratoma