YY1AP1

Summary

YY1AP1 (YY1 associated protein 1, HGNC:30935) is a protein-coding gene on chromosome 1q22, encoding YY1-associated protein 1 (Q9H869). Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication.

Involved in cell differentiation; cell population proliferation; and regulation of cell cycle. Located in Ino80 complex; fibrillar center; and nucleoplasm.

Source: NCBI Gene 55249 — RefSeq curated summary.

At a glance

• Gene–disease (curated): grange syndrome (Strong, GenCC)
• GWAS associations: 16
• Clinical variants (ClinVar): 174 total — 6 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 21
• MANE Select transcript: NM_139119

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30935
Approved symbol	YY1AP1
Name	YY1 associated protein 1
Location	1q22
Locus type	gene with protein product
Status	Approved
Aliases	YY1AP, HCCA2, YAP
Ensembl gene	ENSG00000163374
Ensembl biotype	protein_coding
OMIM	607860
Entrez	55249

Gene structure

Transcript identifiers

Ensembl transcripts: 106 — 72 protein_coding, 30 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000295566, ENST00000311573, ENST00000347088, ENST00000354691, ENST00000355499, ENST00000359205, ENST00000361140, ENST00000361831, ENST00000368330, ENST00000368339, ENST00000368340, ENST00000404643, ENST00000405763, ENST00000407221, ENST00000436865, ENST00000442834, ENST00000443231, ENST00000454523, ENST00000466366, ENST00000476027, ENST00000476093, ENST00000477470, ENST00000488784, ENST00000493625, ENST00000496324, ENST00000714536, ENST00000714537, ENST00000714538, ENST00000714539, ENST00000714548, ENST00000714549, ENST00000714550, ENST00000714551, ENST00000714552, ENST00000714707, ENST00000714708, ENST00000714709, ENST00000714710, ENST00000714711, ENST00000714712, ENST00000714713, ENST00000714714, ENST00000714786, ENST00000714787, ENST00000714788, ENST00000714789, ENST00000714790, ENST00000714791, ENST00000714830, ENST00000714831, ENST00000714832, ENST00000714833, ENST00000715137, ENST00000715138, ENST00000715139, ENST00000715140, ENST00000715141, ENST00000715142, ENST00000715143, ENST00000715144, ENST00000715145, ENST00000715146, ENST00000715147, ENST00000715169, ENST00000715170, ENST00000715171, ENST00000715172, ENST00000715173, ENST00000879225, ENST00000879226, ENST00000879227, ENST00000879228, ENST00000879229, ENST00000879230, ENST00000879231, ENST00000879232, ENST00000879233, ENST00000879234, ENST00000879235, ENST00000879236, ENST00000879237, ENST00000879238, ENST00000879239, ENST00000879240, ENST00000879241, ENST00000879242, ENST00000879243, ENST00000879244, ENST00000879245, ENST00000879246, ENST00000879247, ENST00000920127, ENST00000920128, ENST00000972540, ENST00000972541, ENST00000972542, ENST00000972543, ENST00000972544, ENST00000972545, ENST00000972546, ENST00000972547, ENST00000972548, ENST00000972549, ENST00000972550, ENST00000972551, ENST00000972552

RefSeq mRNA: 12 — MANE Select: NM_139119 NM_001198899, NM_001198900, NM_001198901, NM_001198902, NM_001198903, NM_001198904, NM_001198905, NM_001198906, NM_018253, NM_139118, NM_139119, NM_139121

CCDS: CCDS1115, CCDS1116, CCDS55643, CCDS55644, CCDS55645

Canonical transcript exons

ENST00000355499 — 11 exons

Exon	Start	End
ENSE00001426634	155688659	155688774
ENSE00003460754	155670320	155670464
ENSE00003464775	155668627	155668777
ENSE00003476785	155661307	155661423
ENSE00003505196	155679409	155679512
ENSE00003507066	155675010	155675096
ENSE00003593460	155676548	155676746
ENSE00003688279	155688071	155688201
ENSE00003689028	155680416	155680456
ENSE00003784656	155672560	155672731
ENSE00004025955	155659454	155660913

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7290 / max 107.2671, expressed in 1800 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14978	6.4973	1716
14979	5.2376	1655
14980	1.1907	721
14977	0.8034	479

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.65	gold quality
oocyte	CL:0000023	98.16	gold quality
secondary oocyte	CL:0000655	97.61	gold quality
right testis	UBERON:0004534	97.17	gold quality
left testis	UBERON:0004533	97.15	gold quality
blood	UBERON:0000178	97.14	gold quality
corpus callosum	UBERON:0002336	97.06	gold quality
gastrocnemius	UBERON:0001388	96.89	gold quality
lower esophagus mucosa	UBERON:0035834	96.77	gold quality
muscle of leg	UBERON:0001383	96.70	gold quality
pharyngeal mucosa	UBERON:0000355	96.65	gold quality
adult organism	UBERON:0007023	96.56	gold quality
saphenous vein	UBERON:0007318	96.48	gold quality
nipple	UBERON:0002030	96.33	gold quality
cortical plate	UBERON:0005343	96.27	gold quality
trabecular bone tissue	UBERON:0002483	96.25	gold quality
superficial temporal artery	UBERON:0001614	96.00	gold quality
cartilage tissue	UBERON:0002418	95.98	gold quality
granulocyte	CL:0000094	95.92	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.89	gold quality
trachea	UBERON:0003126	95.88	gold quality
muscle organ	UBERON:0001630	95.86	gold quality
testis	UBERON:0000473	95.85	gold quality
popliteal artery	UBERON:0002250	95.85	gold quality
tibial artery	UBERON:0007610	95.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.82	gold quality
cerebellar cortex	UBERON:0002129	95.80	gold quality
cerebellar hemisphere	UBERON:0002245	95.80	gold quality
oral cavity	UBERON:0000167	95.78	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting YY1AP1, 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-1468-3P	99.96	72.74	3797
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-4684-3P	98.24	69.91	1075
HSA-MIR-193B-5P	97.91	65.88	837
HSA-MIR-1225-3P	97.29	64.60	876
HSA-MIR-10398-5P	97.12	64.94	1051

Literature-anchored findings (GeneRIF, showing 14)

• human liver cancer associated gene (PMID:11856496)
• YY1AP is a novel co-activator of YY1 (PMID:14744866)
• HCCA2 may play a novel role in cell cycle regulation. (PMID:17541814)
• YY1AP1 may serve as a key molecular target for EpCAM(+) AFP(+) HCC subtype (PMID:25597408)
• Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. (PMID:27939641)
• Data indicate WW-binding protein 2 (WBP2) as an important co-factor of YY1 associated protein 1 (YAP) that enhances YAP/TEAD-mediated gene transcription. (PMID:28332498)
• Study proposed that the overexpression of YAP and TAZ around the human molluscum contagiosum (MC) virus infected skin lesions supports the hypothesis that the Hippo signaling pathway plays a key role in the development of MC. It is also conceivable that MCV contributes to the development of an infectious environment by increasing the expression of YAP/TAZ and subsequently inhibiting TBK1. (PMID:29330849)
• This is the first report of biallelic YY1AP1 variants in noncoding regions and just the second family with multiple affected siblings. (PMID:30556293)
• Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. (PMID:31270375)
• The results suggest that YAP/TAZ may be modulating cell volume in combination with cytoskeletal tension during cell cycle progression. (PMID:31481532)
• Prostaglandin E2 and its receptor EP2 trigger signaling that contributes to YAP-mediated cell competition. (PMID:31989743)
• CUL4A promotes proliferation and inhibits apoptosis of colon cancer cells via regulating Hippo pathway. (PMID:33155207)
• Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease. (PMID:33971976)
• KAT6A is associated with sorafenib resistance and contributes to progression of hepatocellular carcinoma by targeting YAP. (PMID:34808502)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gon4l	ENSMUSG00000054199
rattus_norvegicus	Gon4l	ENSRNOG00000020297

Paralogs (1): GON4L (ENSG00000116580)

Protein

Protein identifiers

YY1-associated protein 1 — Q9H869 (reviewed: Q9H869)

Alternative names: Hepatocellular carcinoma susceptibility protein, Hepatocellular carcinoma-associated protein 2

All UniProt accessions (40): A0AAQ5BI46, A0AAQ5BI48, A0AAQ5BI55, A0AAQ5BI56, A0AAQ5BI62, A0AAQ5BI67, A0AAQ5BI69, A0AAQ5BI71, A0AAQ5BI72, A0AAQ5BI74, A0AAQ5BI75, A0AAQ5BI83, A0AAQ5BI84, A0AAQ5BI85, A0AAQ5BI87, A0AAQ5BI90, A0AAQ5BI92, A0AAQ5BI93, A0AAQ5BI94, A0AAQ5BIA0, A0AAQ5BIA1, A0AAQ5BIA3, Q9H869, A0AAQ5BIA7, A0AAQ5BIA8, A0AAQ5BIB0, A0AAQ5BIB1, A0AAQ5BIB2, A0AAQ5BIB3, A0AAQ5BIB5, A0AAQ5BIB7, A0AAQ5BIC5, A0AAQ5BIE2, A0AAQ5BIE9, A3KFK1, A3KFK2, B0QZ55, B4DZQ4, F8WD62, Q68CT8

UniProt curated annotations — full annotation on UniProt →

Function. Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication. Enhances transcription activation by YY1. Plays a role in cell cycle regulation.

Subunit / interactions. Interacts with YY1. Interacts with MAD2L2. Interacts with INO80.

Subcellular location. Cytoplasm. Nucleus. Nucleoplasm. Nucleolus.

Tissue specificity. Ubiquitous. Detected in small intestine, skeletal muscle, lung, pancreas, brain, stomach, spleen, colon and heart. Detected at very low levels in healthy liver. Highly expressed in most liver carcinomas.

Disease relevance. Grange syndrome (GRNG) [MIM:602531] An autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (9)

UniProt ID	Names	Canonical?
Q9H869-1	1	yes
Q9H869-2	2
Q9H869-3	3
Q9H869-4	4
Q9H869-5	5
Q9H869-6	6, HCCA1
Q9H869-7	7
Q9H869-8	8
Q9H869-9	9

RefSeq proteins (12): NP_001185828, NP_001185829, NP_001185830, NP_001185831, NP_001185832, NP_001185833, NP_001185834, NP_001185835, NP_060723, NP_620829, NP_620830, NP_620832 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR052435	YY1-Transcr_Regul	Family

UniProt features (25 total): splice variant 6, sequence variant 6, sequence conflict 4, compositionally biased region 4, region of interest 3, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H869-F1	54.58	0.15

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 (1): 724

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 159 (showing top): CMYB_01, CAFFAREL_RESPONSE_TO_THC_UP, TGACCTY_ERR1_Q2, CAGCTG_AP4_Q5, YY1_Q6, NFKB_Q6, PATIL_LIVER_CANCER, NFKB_C, YY1_02, GOBP_REGULATION_OF_CELL_CYCLE, TGIF_01, chr1q22, RYTTCCTG_ETS2_B, BOYAULT_LIVER_CANCER_SUBCLASS_G12_UP, YY1_01

GO Biological Process (3): cell population proliferation (GO:0008283), cell differentiation (GO:0030154), regulation of cell cycle (GO:0051726)

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

GO Cellular Component (6): fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), Ino80 complex (GO:0031011)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear lumen	2
cellular process	1
cellular developmental process	1
cell cycle	1
regulation of cellular process	1
binding	1
nucleolus	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
nuclear chromosome	1
INO80-type complex	1

Protein interactions and networks

STRING

1876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
YY1AP1	ASH1L	Q9NR48	939
YY1AP1	YY1	P25490	632
YY1AP1	ACAD9	Q9H845	547
YY1AP1	ACADVL	P49748	377
YY1AP1	MSTO1	Q9BUK6	370
YY1AP1	OR52B4	Q8NGK2	368
YY1AP1	ZNF585A	Q6P3V2	321
YY1AP1	SCAMP3	O14828	318
YY1AP1	OR10C1	Q96KK4	307
YY1AP1	WWC3	Q9ULE0	299
YY1AP1	B4GALT7	Q9UBV7	298
YY1AP1	ZNF552	Q9H707	294
YY1AP1	SLC50A1	Q9BRV3	286
YY1AP1	GRN	P23781	285
YY1AP1	LSM11	P83369	284

IntAct

59 interactions, top by confidence:

A	B	Type	Score
INO80E	YY1	psi-mi:“MI:0914”(association)	0.900
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
YY1AP1	YY1	psi-mi:“MI:0403”(colocalization)	0.630
YY1AP1	YY1	psi-mi:“MI:0914”(association)	0.630
YY1	YY1AP1	psi-mi:“MI:0915”(physical association)	0.630
YY1	YY1AP1	psi-mi:“MI:0403”(colocalization)	0.630
SS18L2	SMARCA2	psi-mi:“MI:0914”(association)	0.570
YY1AP1	MAPK14	psi-mi:“MI:0915”(physical association)	0.550
EWSR1	YY1AP1	psi-mi:“MI:0915”(physical association)	0.550
N	NOP56	psi-mi:“MI:0914”(association)	0.530
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
FBL	ZNF316	psi-mi:“MI:0914”(association)	0.530
CLEC3A	ZZEF1	psi-mi:“MI:0914”(association)	0.530
PRR20E	SIAH2	psi-mi:“MI:0914”(association)	0.530
ZNF524	C1QBP	psi-mi:“MI:0914”(association)	0.530
ATXN1	YY1AP1	psi-mi:“MI:0915”(physical association)	0.510
SS18L2	ARID1A	psi-mi:“MI:2364”(proximity)	0.480
SS18L2	ARID1A	psi-mi:“MI:0914”(association)	0.480
YY1AP1	FXR1	psi-mi:“MI:0915”(physical association)	0.370
MDM2	YY1AP1	psi-mi:“MI:0915”(physical association)	0.370
YY1AP1	PRKAB2	psi-mi:“MI:0915”(physical association)	0.370
YY1AP1	ZFAT	psi-mi:“MI:0915”(physical association)	0.370
YY1AP1	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.370
	YY1AP1	psi-mi:“MI:0915”(physical association)	0.370
CDC16	IFT56	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): YY1AP1 (Affinity Capture-MS), YY1AP1 (Affinity Capture-MS), YY1AP1 (Affinity Capture-MS), YY1AP1 (Two-hybrid), YY1AP1 (Affinity Capture-MS), SS18L2 (Affinity Capture-MS), YY1AP1 (Affinity Capture-MS), YY1AP1 (Affinity Capture-MS), YY1AP1 (Affinity Capture-MS), YY1AP1 (Affinity Capture-MS), YY1AP1 (Affinity Capture-MS), ZNF579 (Affinity Capture-MS), BAG1 (Affinity Capture-MS), ZNF496 (Affinity Capture-MS), HIC2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVQ3, A0A1W2PPK0, A0A1W2PPM1, A2A9I7, A6NCI8, A6QQS3, A7XCE8, E9PI22, E9PXT9, O15016, O91083, P09414, P0DMB1, P17923, P18804, P20879, P35965, P49750, Q0P670, Q12857, Q1RMX6, Q32LN6, Q32MG2, Q3B8N5, Q3T016, Q3V0A6, Q4JK59, Q5BI31, Q5T035, Q5ZKH6, Q642A3, Q6AXV6, Q6IMN6, Q6P1W5, Q6PEX7, Q6X4T0, Q80YD3, Q86UF4, Q8BII1, Q8C5V0

Diamond homologs: Q3T8J9, Q535K8, Q9DB00, Q9H869, Q9UKL3, Q9WUF3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	4
Uncertain significance	117
Likely benign	25
Benign	6

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1172641	NM_001198903.1:c.998_1293del	Pathogenic
375638	NM_139119.3(YY1AP1):c.310C>T (p.Gln104Ter)	Pathogenic
375639	NM_139119.3(YY1AP1):c.1976T>A (p.Leu659Ter)	Pathogenic
375640	NM_139119.3(YY1AP1):c.1987G>T (p.Glu663Ter)	Pathogenic
523660	NM_139119.3(YY1AP1):c.412-1G>A	Pathogenic
523661	NM_139119.3(YY1AP1):c.583+23T>G	Pathogenic
1098711	NM_139119.3(YY1AP1):c.743del (p.Gly248fs)	Likely pathogenic
1679351	NM_139119.3(YY1AP1):c.207del (p.Lys69fs)	Likely pathogenic
3371308	NM_139119.3(YY1AP1):c.1877del (p.Pro626fs)	Likely pathogenic
375641	NM_139119.3(YY1AP1):c.1489_1492del (p.Glu498fs)	Likely pathogenic

SpliceAI

2306 predictions. Top by Δscore:

Variant	Effect	Δscore
1:155670318:A:AC	donor_gain	1.0000
1:155670319:C:CC	donor_gain	1.0000
1:155670465:C:CC	acceptor_gain	1.0000
1:155672548:T:C	donor_gain	1.0000
1:155672559:CCAGT:C	donor_gain	1.0000
1:155672728:CTTT:C	acceptor_gain	1.0000
1:155672732:C:CC	acceptor_gain	1.0000
1:155675008:A:AC	donor_gain	1.0000
1:155675009:C:CC	donor_gain	1.0000
1:155675009:CAAGA:C	donor_gain	1.0000
1:155675093:CATG:C	acceptor_gain	1.0000
1:155679436:G:C	donor_gain	1.0000
1:155679513:C:CC	acceptor_gain	1.0000
1:155689241:G:GT	donor_gain	1.0000
1:155661308:TTTA:T	donor_gain	0.9900
1:155661419:TAAAA:T	acceptor_gain	0.9900
1:155661424:C:CC	acceptor_gain	0.9900
1:155661425:T:C	acceptor_gain	0.9900
1:155661430:A:C	acceptor_gain	0.9900
1:155668625:A:AC	donor_gain	0.9900
1:155668626:C:CC	donor_gain	0.9900
1:155668714:CTTG:C	acceptor_gain	0.9900
1:155670312:ACACT:A	donor_loss	0.9900
1:155670313:CACT:C	donor_loss	0.9900
1:155670314:ACTTA:A	donor_loss	0.9900
1:155670315:CTTAC:C	donor_loss	0.9900
1:155670316:TT:T	donor_loss	0.9900
1:155670317:TAC:T	donor_loss	0.9900
1:155670318:A:T	donor_loss	0.9900
1:155670319:CTTGT:C	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000029561 (1:155673316 G>A,C), RS1000103849 (1:155671417 C>G,T), RS1000224687 (1:155689961 C>T), RS1000274675 (1:155684232 G>A,C), RS1000582671 (1:155671445 GAAAA>G), RS1000963782 (1:155665174 T>C), RS1001023899 (1:155659433 T>C), RS1001080243 (1:155665665 C>T), RS1001124199 (1:155684352 C>G,T), RS1001134398 (1:155688680 C>T), RS1001229156 (1:155688844 G>C), RS1001300423 (1:155678528 T>G), RS1001437019 (1:155671790 A>C,G), RS1001681666 (1:155684835 C>G), RS1002078010 (1:155664525 A>G)

Disease associations

OMIM: gene MIM:607860 | disease phenotypes: MIM:602531

GenCC curated gene-disease

Disease	Classification	Inheritance
grange syndrome	Strong	Autosomal recessive

Mondo (2): grange syndrome (MONDO:0011243), intellectual disability (MONDO:0001071)

Orphanet (2): Grange syndrome (Orphanet:79094), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

21 total (21 of 21 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000822	Hypertension
HP:0001156	Brachydactyly
HP:0001159	Syndactyly
HP:0001249	Intellectual disability
HP:0001328	Specific learning disability
HP:0001629	Ventricular septal defect
HP:0001643	Patent ductus arteriosus
HP:0001647	Bicuspid aortic valve
HP:0001659	Aortic regurgitation
HP:0001920	Renal artery stenosis
HP:0002659	Increased susceptibility to fractures
HP:0002757	Recurrent fractures
HP:0004279	Short palm
HP:0004325	Decreased body weight
HP:0005145	Coronary artery stenosis
HP:0006889	Borderline intellectual disability
HP:0040019	Finger clinodactyly
HP:0100545	Arterial stenosis
HP:0100546	Carotid artery stenosis
HP:0100817	Renovascular hypertension

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST004131_70	Inflammatory bowel disease	6.000000e-08
GCST004132_44	Crohn’s disease	2.000000e-07
GCST007294_124	Body fat distribution (trunk fat ratio)	8.000000e-35
GCST007294_3	Body fat distribution (trunk fat ratio)	6.000000e-21
GCST007294_50	Body fat distribution (trunk fat ratio)	1.000000e-15
GCST007295_17	Body fat distribution (leg fat ratio)	3.000000e-13
GCST007295_37	Body fat distribution (leg fat ratio)	7.000000e-17
GCST007295_72	Body fat distribution (leg fat ratio)	1.000000e-28
GCST010696_19	Cortical thickness (min-P)	2.000000e-10
GCST010697_10	Cortical surface area (min-P)	3.000000e-10
GCST010698_59	Subcortical volume (min-P)	9.000000e-10
GCST010699_20	Brain morphology (min-P)	7.000000e-10
GCST010700_5	Cortical thickness (MOSTest)	8.000000e-17
GCST010701_66	Cortical surface area (MOSTest)	1.000000e-09
GCST010702_43	Subcortical volume (MOSTest)	3.000000e-10
GCST010703_253	Brain morphology (MOSTest)	4.000000e-14

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C566529	Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (supp.)

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
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	2
Acrolein	affects cotreatment, decreases expression, increases abundance	2
Ozone	affects cotreatment, decreases expression, increases abundance	2
Cyclosporine	increases expression	2
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
beta-lapachone	decreases expression	1
cobaltous chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Air Pollutants	decreases expression, increases abundance, affects cotreatment	1
Vehicle Emissions	decreases expression, increases abundance	1
Cadmium	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Phenobarbital	affects expression	1
Rotenone	decreases expression	1
Dronabinol	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
Valproic Acid	affects expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1
Particulate Matter	increases abundance, decreases expression	1
Volatile Organic Compounds	affects cotreatment, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2LL	Abcam HeLa YY1AP1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders