CORO7

Summary

CORO7 (coronin 7, HGNC:26161) is a protein-coding gene on chromosome 16p13.3, encoding Coronin-7 (P57737). F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via ‘Lys-33’-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization,….

This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene.

Source: NCBI Gene 79585 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 183 total
• MANE Select transcript: NM_024535

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26161
Approved symbol	CORO7
Name	coronin 7
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22021, POD1
Ensembl gene	ENSG00000262246
Ensembl biotype	protein_coding
OMIM	611668
Entrez	79585

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 17 protein_coding, 7 nonsense_mediated_decay, 7 retained_intron, 5 protein_coding_CDS_not_defined

ENST00000251166, ENST00000537233, ENST00000570645, ENST00000570779, ENST00000570928, ENST00000571052, ENST00000571059, ENST00000571227, ENST00000571756, ENST00000572026, ENST00000572044, ENST00000572125, ENST00000572140, ENST00000572153, ENST00000572518, ENST00000572549, ENST00000572666, ENST00000572898, ENST00000573165, ENST00000573245, ENST00000573773, ENST00000574025, ENST00000574311, ENST00000574849, ENST00000575038, ENST00000575531, ENST00000575714, ENST00000575850, ENST00000576051, ENST00000576437, ENST00000576457, ENST00000576637, ENST00000577144, ENST00000898827, ENST00000898828, ENST00000898829

RefSeq mRNA: 4 — MANE Select: NM_024535 NM_001201472, NM_001201473, NM_001351729, NM_024535

CCDS: CCDS10513, CCDS55982, CCDS58417

Canonical transcript exons

ENST00000251166 — 28 exons

Exon	Start	End
ENSE00001145969	4354542	4355163
ENSE00002209549	4416459	4416596
ENSE00003461337	4395289	4395339
ENSE00003468915	4408181	4408251
ENSE00003472560	4365491	4365545
ENSE00003480000	4360943	4361085
ENSE00003486266	4358367	4358483
ENSE00003492121	4387986	4388068
ENSE00003495823	4355286	4355372
ENSE00003499201	4360278	4360363
ENSE00003513440	4359296	4359385
ENSE00003515429	4362612	4362738
ENSE00003521083	4388545	4388631
ENSE00003526158	4364276	4364413
ENSE00003528634	4407501	4407684
ENSE00003537717	4361985	4362160
ENSE00003597456	4361162	4361248
ENSE00003599294	4413308	4413404
ENSE00003602603	4405491	4405567
ENSE00003626509	4360444	4360548
ENSE00003630284	4412356	4412430
ENSE00003634625	4359480	4359621
ENSE00003644390	4364597	4364689
ENSE00003652909	4357968	4358103
ENSE00003656185	4361361	4361469
ENSE00003665522	4364775	4364920
ENSE00003665774	4365003	4365060
ENSE00003685915	4357168	4357259

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 97.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.2233 / max 59.4992, expressed in 1289 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156087	35.8265	1808
156088	1.8654	1080
156086	1.0183	379
156085	0.3396	141

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	97.68	gold quality
bone marrow	UBERON:0002371	97.67	gold quality
blood	UBERON:0000178	97.59	gold quality
bone marrow cell	CL:0002092	97.31	gold quality
spleen	UBERON:0002106	96.54	gold quality
monocyte	CL:0000576	94.98	gold quality
leukocyte	CL:0000738	94.97	gold quality
left testis	UBERON:0004533	93.71	gold quality
right testis	UBERON:0004534	93.63	gold quality
right uterine tube	UBERON:0001302	93.60	gold quality
vermiform appendix	UBERON:0001154	93.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.24	gold quality
lymph node	UBERON:0000029	93.00	gold quality
small intestine	UBERON:0002108	92.96	gold quality
right lung	UBERON:0002167	92.63	gold quality
testis	UBERON:0000473	92.23	gold quality
upper lobe of left lung	UBERON:0008952	92.18	gold quality
sural nerve	UBERON:0015488	92.11	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.90	gold quality
duodenum	UBERON:0002114	91.82	gold quality
mucosa of transverse colon	UBERON:0004991	91.39	gold quality
primary visual cortex	UBERON:0002436	90.89	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.88	gold quality
transverse colon	UBERON:0001157	90.60	gold quality
tibial nerve	UBERON:0001323	90.59	gold quality
metanephros cortex	UBERON:0010533	90.51	gold quality
cortical plate	UBERON:0005343	90.40	gold quality
putamen	UBERON:0001874	90.25	gold quality
apex of heart	UBERON:0002098	90.24	gold quality
right coronary artery	UBERON:0001625	89.93	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting CORO7, 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-3605-5P	99.96	67.12	932
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-1301-5P	98.09	66.62	495
HSA-MIR-6502-5P	98.09	66.73	495
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299

Literature-anchored findings (GeneRIF, showing 6)

• role in the organization of intracellular membrane compartments and vesicular trafficking rather than in remodeling the cytoskeleton (PMID:15327992)
• Crn7 interacts with AP-1 and is required for the maintenance of Golgi morphology and protein export from the Golgi (PMID:16905771)
• Sequential events of protein interaction and posttranslational modification result in the membrane targeting of Crn7. (PMID:18581049)
• Data show that CRN7 interacted with Cullin1 and Roc1 to form a novel SCF-like E3 complex. (PMID:21130766)
• Results show that enforced targeting of Crn7 to TGN 9trans-Golgi network) bypasses the requirement of K33-ubiquitination for TGN-pool F-actin assembly and post-Golgi trafficking. (PMID:24768539)
• Obese children had significantly lower methylation levels at a CpG site located near coronin 7 (CORO7), which encodes a tryptophan-aspartic acid dipeptide (WD)-repeat containing protein most likely involved in Golgi complex morphology and function (PMID:25887538)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	coro7	ENSDARG00000089616
		ENSDARG00000100810
mus_musculus	Coro7	ENSMUSG00000039637
rattus_norvegicus	Coro7	ENSRNOG00000004146
drosophila_melanogaster	pod1	FBGN0029903
caenorhabditis_elegans		WBGENE00004075

Paralogs (6): CORO1A (ENSG00000102879), CORO2B (ENSG00000103647), CORO2A (ENSG00000106789), CORO1C (ENSG00000110880), CORO6 (ENSG00000167549), CORO1B (ENSG00000172725)

Protein

Protein identifiers

Coronin-7 — P57737 (reviewed: P57737)

Alternative names: 70 kDa WD repeat tumor rejection antigen homolog

All UniProt accessions (19): E7EP81, P57737, I3L0X8, I3L0Z7, I3L1G9, I3L1M1, I3L1T5, I3L1Z1, I3L212, I3L258, I3L2S7, I3L2Y6, I3L351, I3L359, I3L423, I3L426, I3L442, I3L482, I3NI06

UniProt curated annotations — full annotation on UniProt →

Function. F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via ‘Lys-33’-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post-Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology.

Subunit / interactions. Interacts with clathrin adapter AP1 complex. This interaction takes place at Golgi membranes and not AP1-positive endosomal membranes. Interacts (when ubiquitinated at Lys-472) with EPS15.

Subcellular location. Golgi apparatus membrane. Golgi apparatus. trans-Golgi network. Cytoplasmic vesicle. Cytoplasm. Cytosol.

Tissue specificity. Widely expressed. Expressed in the spleen, peripheral leukocytes, testes, brain, thymus and small intestine.

Post-translational modifications. The membrane-associated form is phosphorylated on tyrosine residues. Ubiquitinated via ‘Lys-33’-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex: ‘Lys-33’-linked ubiquitination promotes interaction with EPS15 and facilitates actin polymerization at the trans-Golgi network, thereby facilitating post-Golgi trafficking. Deubiquitinated by ZRANB1/TRABID.

Similarity. Belongs to the WD repeat coronin family.

Isoforms (4)

UniProt ID	Names	Canonical?
P57737-1	1	yes
P57737-2	2
P57737-3	3
P57737-4	4

RefSeq proteins (4): NP_001188401, NP_001188402, NP_001338658, NP_078811* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015048	DUF1899	Domain
IPR015505	Coronin	Family
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily

Pfam: PF00400, PF08953, PF16300

UniProt features (32 total): repeat 8, sequence variant 4, sequence conflict 4, compositionally biased region 3, modified residue 3, splice variant 3, region of interest 2, cross-link 2, mutagenesis site 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9EAM	ELECTRON MICROSCOPY	2.97

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P57737-F1	86.71	0.69

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 (5): 462, 465, 915, 472, 680

Mutagenesis-validated functional residues (2):

Position	Phenotype
472	impaired ability to regulate the anterograde golgi to endosome transport.
680	does not affect ability to regulate the anterograde golgi to endosome transport.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 168 (showing top): GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_HIPPO_SIGNALING, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOCC_TRANS_GOLGI_NETWORK, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_GOLGI_TO_ENDOSOME_TRANSPORT, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOMF_ACTIN_BINDING, BRACHAT_RESPONSE_TO_METHOTREXATE_DN, MARIADASON_REGULATED_BY_HISTONE_ACETYLATION_UP

GO Biological Process (8): Golgi to endosome transport (GO:0006895), Golgi organization (GO:0007030), protein transport (GO:0015031), cell migration (GO:0016477), establishment of cell polarity (GO:0030010), actin filament polymerization (GO:0030041), positive regulation of hippo signaling (GO:0035332), actin filament organization (GO:0007015)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (7): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
cellular anatomical structure	3
post-Golgi vesicle-mediated transport	1
intercellular transport	1
cytosolic transport	1
organelle organization	1
endomembrane system organization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
cell motility	1
establishment or maintenance of cell polarity	1
actin polymerization or depolymerization	1
protein polymerization	1
hippo signaling	1
regulation of hippo signaling	1
positive regulation of intracellular signal transduction	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
cytoskeletal protein binding	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1
intracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

450 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CORO7	EPS15	P42566	794
CORO7	KLHL20	Q9Y2M5	633
CORO7	CDC42	P21181	553
CORO7	TMEM81	Q6P7N7	431
CORO7	RNF166	Q96A37	429
CORO7	KBTBD8	Q8NFY9	383
CORO7	FAM98C	Q17RN3	380
CORO7	OR10Q1	Q8NGQ4	359
CORO7	COA3	Q9Y2R0	354
CORO7	FER1L5	A0AVI2	353
CORO7	TMTC4	Q5T4D3	348
CORO7	KLHL28	Q9NXS3	347
CORO7	FLYWCH2	Q96CP2	341
CORO7	WAS	P42768	333
CORO7	ZNF672	Q499Z4	319

IntAct

47 interactions, top by confidence:

A	B	Type	Score
CCT2	TXNDC9	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CCT3	TXNDC9	psi-mi:“MI:0914”(association)	0.640
CCT7	TXNDC9	psi-mi:“MI:0914”(association)	0.640
Tob1	CORO7	psi-mi:“MI:0915”(physical association)	0.540
CORO7	Tob1	psi-mi:“MI:0915”(physical association)	0.540
CORO7	Tob1	psi-mi:“MI:0403”(colocalization)	0.540
ASB6	POLR2D	psi-mi:“MI:0914”(association)	0.530
AZIN2	OAZ2	psi-mi:“MI:0914”(association)	0.530
CNTF	CHM	psi-mi:“MI:0914”(association)	0.530
ELOB	CORO7	psi-mi:“MI:0915”(physical association)	0.400
CORO7	ELOC	psi-mi:“MI:0915”(physical association)	0.400
CUL1	CORO7	psi-mi:“MI:0915”(physical association)	0.400
CORO7	CDC34	psi-mi:“MI:0915”(physical association)	0.400
CORO7	RBX1	psi-mi:“MI:0915”(physical association)	0.400
Rhoa	CLK2	psi-mi:“MI:0914”(association)	0.350
Myh10	LMO7	psi-mi:“MI:0914”(association)	0.350
BLM	MCM3AP	psi-mi:“MI:0914”(association)	0.350
MMGT1	DERL1	psi-mi:“MI:0914”(association)	0.350
SETD4	TADA3	psi-mi:“MI:0914”(association)	0.350
S100A4	BBX	psi-mi:“MI:0914”(association)	0.350
MRPL50	MRPL43	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350
KLHL20	KRBA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (143): CORO7 (Two-hybrid), TOB1 (Biochemical Activity), CORO7 (Biochemical Activity), CORO7 (Affinity Capture-Western), CORO7 (Protein-peptide), CORO7 (Protein-peptide), CORO7 (Affinity Capture-Western), AP1G1 (Affinity Capture-Western), CORO7 (Affinity Capture-MS), CORO7 (Affinity Capture-MS), CORO7 (Affinity Capture-MS), CORO7 (Affinity Capture-MS), CORO7 (Affinity Capture-MS), CORO7 (Affinity Capture-MS), CORO7 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5PJB7, A2RRH5, A5A779, O35828, P57737, P58742, P97452, Q0V8F1, Q0VBY8, Q12851, Q15334, Q32LP9, Q3SWZ7, Q3TJ91, Q3UFQ8, Q499N3, Q4R4J2, Q4VBE8, Q5EA80, Q5NVK5, Q5RBW3, Q5RCX2, Q5U4D9, Q5U4F6, Q5XHY1, Q5XII5, Q61161, Q6AY87, Q6P1M3, Q7SZE3, Q80Y17, Q810D6, Q86W42, Q8BGW4, Q8C0P5, Q8CHW4, Q8K4K5, Q8MKF0, Q8N0W3, Q8ND23

Diamond homologs: A1CF18, A1CUD6, A1DP19, A2QP30, A4R3M4, A7ECP3, A7EKM8, A8NEG8, A8XZJ9, B0XM00, B2AEZ5, B2B766, B2VWG7, B6GZD3, B6HP56, B6QC06, B6QC56, B8M0Q1, B8N9H4, B8PD53, B9WD30, C0NRC6, C0S902, C1GB49, C4JPW9, C4JZS6, C4Q0P6, C4YPI7, C5FWH1, C5GVJ9, C5JD40, C5MJE8, C5PFX0, C6HTE8, C7Z6H2, D1ZEB4, D1ZEM6, D4AZ50, D4DG66, D5GBI7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SRC	“up-regulates activity”	CORO7	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 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
Antigen processing: Ubiquitination & Proteasome degradation	9	8.2×	3e-04
Neddylation	7	8.1×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein ubiquitination	9	7.2×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	162
Likely benign	14
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

5118 predictions. Top by Δscore:

Variant	Effect	Δscore
16:4355278:CTA:C	donor_gain	1.0000
16:4355280:ACT:A	donor_loss	1.0000
16:4355281:CTC:C	donor_loss	1.0000
16:4355281:CTCA:C	donor_loss	1.0000
16:4355282:T:TT	donor_loss	1.0000
16:4355283:CAC:C	donor_loss	1.0000
16:4355284:A:AC	donor_gain	1.0000
16:4355284:A:T	donor_loss	1.0000
16:4355284:AC:A	donor_gain	1.0000
16:4355285:C:CA	donor_loss	1.0000
16:4355285:C:CC	donor_gain	1.0000
16:4355285:CC:C	donor_gain	1.0000
16:4355285:CCCA:C	donor_gain	1.0000
16:4355368:AGCAG:A	acceptor_gain	1.0000
16:4355369:GCAG:G	acceptor_gain	1.0000
16:4355369:GCAGC:G	acceptor_loss	1.0000
16:4355370:CAG:C	acceptor_gain	1.0000
16:4355370:CAGC:C	acceptor_gain	1.0000
16:4355370:CAGCT:C	acceptor_loss	1.0000
16:4355371:AG:A	acceptor_gain	1.0000
16:4355372:GC:G	acceptor_loss	1.0000
16:4355373:C:CC	acceptor_gain	1.0000
16:4355373:C:T	acceptor_loss	1.0000
16:4355374:T:A	acceptor_loss	1.0000
16:4355374:T:G	acceptor_loss	1.0000
16:4357256:CTCA:C	acceptor_gain	1.0000
16:4357260:C:CC	acceptor_gain	1.0000
16:4358017:AGCG:A	donor_gain	1.0000
16:4358100:CTTT:C	acceptor_gain	1.0000
16:4358365:AC:A	donor_gain	1.0000

AlphaMissense

5937 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:4355286:C:A	W924C	0.995
16:4355286:C:G	W924C	0.995
16:4355288:A:G	W924R	0.994
16:4355288:A:T	W924R	0.994
16:4358386:A:G	F813S	0.994
16:4360533:A:G	W645R	0.994
16:4360533:A:T	W645R	0.994
16:4362028:G:T	A512D	0.991
16:4360283:A:C	F701L	0.990
16:4360283:A:T	F701L	0.990
16:4360285:A:G	F701L	0.990
16:4355371:A:G	L896P	0.988
16:4361394:A:G	W552R	0.988
16:4361394:A:T	W552R	0.988
16:4362143:G:T	R474S	0.988
16:4355363:C:G	A899P	0.986
16:4358092:G:C	F823L	0.986
16:4358092:G:T	F823L	0.986
16:4358094:A:G	F823L	0.986
16:4361054:G:C	F602L	0.986
16:4361054:G:T	F602L	0.986
16:4361056:A:G	F602L	0.986
16:4362131:C:G	G478R	0.986
16:4362140:G:C	H475D	0.985
16:4361222:A:G	W572R	0.983
16:4361222:A:T	W572R	0.983
16:4358077:G:C	F828L	0.982
16:4358077:G:T	F828L	0.982
16:4358079:A:G	F828L	0.982
16:4359326:G:C	C770W	0.982

dbSNP variants (sampled 300 via entrez): RS1000093995 (16:4411979 C>T), RS1000120584 (16:4380768 T>C), RS1000142618 (16:4402768 G>A), RS1000178796 (16:4402652 C>G), RS1000183479 (16:4355712 G>A), RS1000215234 (16:4387792 C>A,T), RS1000256895 (16:4355531 C>T), RS1000293207 (16:4383129 G>A,T), RS1000304334 (16:4392456 G>A), RS1000331728 (16:4416234 G>A), RS1000337047 (16:4366764 A>G), RS1000425268 (16:4368579 C>A,G), RS1000435228 (16:4366414 C>T), RS1000442544 (16:4413936 A>C), RS1000478988 (16:4403601 C>A,T)

Disease associations

OMIM: gene MIM:611668 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): acute megakaryoblastic leukemia (MONDO:0018872), mediastinal germ cell tumor (MONDO:0021067)

Orphanet (1): Acute megakaryoblastic leukemia (Orphanet:518)

HPO phenotypes

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

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST004067_193	Hip circumference adjusted for BMI	6.000000e-06
GCST004067_81	Hip circumference adjusted for BMI	7.000000e-09
GCST004946_101	Schizophrenia	5.000000e-09
GCST006956_6	Erectile dysfunction	2.000000e-06
GCST007483_2	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-13
GCST007487_53	Waist-to-hip ratio adjusted for BMI (additive genetic model)	4.000000e-13
GCST007500_43	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-11
GCST007502_28	Waist-to-hip ratio adjusted for BMI (additive genetic model)	4.000000e-11
GCST010926_5	Waist-to-hip ratio adjusted for BMI	3.000000e-14
GCST012227_376	Hip circumference adjusted for BMI	4.000000e-12
GCST012228_504	Waist-hip index	6.000000e-09
GCST012230_146	Waist-to-hip ratio adjusted for BMI	9.000000e-10
GCST90002381_76	Eosinophil count	4.000000e-12
GCST90002386_280	High light scatter reticulocyte percentage of red cells	5.000000e-10
GCST90002388_161	Lymphocyte count	3.000000e-12
GCST90020024_737	A body shape index	4.000000e-10
GCST90020025_140	Waist-to-hip ratio adjusted for BMI	2.000000e-08
GCST90020025_141	Waist-to-hip ratio adjusted for BMI	9.000000e-12
GCST90020025_148	Waist-to-hip ratio adjusted for BMI	2.000000e-08
GCST90020025_149	Waist-to-hip ratio adjusted for BMI	5.000000e-16
GCST90020025_150	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST90020027_650	Waist-hip index	4.000000e-08
GCST90020027_652	Waist-hip index	1.000000e-15
GCST90020027_653	Waist-hip index	2.000000e-08
GCST90020027_654	Waist-hip index	3.000000e-08
GCST90020027_655	Waist-hip index	1.000000e-11
GCST90020028_1489	Hip circumference adjusted for BMI	5.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004842	eosinophil count
EFO:0004587	lymphocyte count
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007947	Leukemia, Megakaryoblastic, Acute	C04.557.337.539.275.450; C15.378.508.539.275.450

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs3810818	Efficacy	3	methylphenidate	Attention Deficit Disorder with Hyperactivity

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3810818	CORO7, VASN	3	0.00	1	methylphenidate

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, affects expression	2
Benzo(a)pyrene	affects methylation	2
Ozone	affects cotreatment, increases expression, increases abundance, affects expression	2
Particulate Matter	decreases expression, affects cotreatment, increases abundance, increases expression	2
FR900359	decreases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
diallyl trisulfide	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	decreases methylation	1
(+)-JQ1 compound	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	affects cotreatment, increases expression	1
Acrolein	increases expression, increases abundance, affects cotreatment	1
Arsenic	affects methylation	1
Benztropine	affects cotreatment, decreases expression	1
Cisplatin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04083170	PHASE2	TERMINATED	Cord Blood Transplant With Dilanubicel for the Treatment of HIV Positive Hematologic Cancers
NCT00392353	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Vorinostat and Azacitidine in Treating Patients With Myelodysplastic Syndromes or Acute Myeloid Leukemia
NCT01823198	PHASE1/PHASE2	COMPLETED	Donor Natural Killer Cells and Donor Stem Cell Transplant in Treating Patients With High Risk Myeloid Malignancies
NCT02530619	Not specified	UNKNOWN	Alisertib in Treating Patients With Myelofibrosis or Relapsed or Refractory Acute Megakaryoblastic Leukemia