FRYL

Summary

FRYL (FRY like transcription coactivator, HGNC:29127) is a protein-coding gene on chromosome 4p11, encoding Protein furry homolog-like (O94915). Plays a key role in maintaining the integrity of polarized cell extensions during morphogenesis, regulates the actin cytoskeleton and plays a key role in patterning sensory neuron dendritic fields by promoting avoidance between homologous dendrites as well as by limiting dendrit….

Predicted to be involved in cell morphogenesis and neuron projection development. Predicted to be active in cell cortex and site of polarized growth.

Source: NCBI Gene 285527 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 7
• Clinical variants (ClinVar): 482 total — 14 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 77
• MANE Select transcript: NM_015030

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29127
Approved symbol	FRYL
Name	FRY like transcription coactivator
Location	4p11
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686E205, AF4p12, MOR2
Ensembl gene	ENSG00000075539
Ensembl biotype	protein_coding
OMIM	620798
Entrez	285527

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 8 protein_coding, 7 protein_coding_CDS_not_defined, 6 retained_intron, 1 nonsense_mediated_decay

ENST00000302806, ENST00000358350, ENST00000502520, ENST00000502925, ENST00000503238, ENST00000503339, ENST00000505437, ENST00000505759, ENST00000506685, ENST00000507711, ENST00000507873, ENST00000509886, ENST00000511343, ENST00000512297, ENST00000512810, ENST00000513401, ENST00000514617, ENST00000514783, ENST00000515684, ENST00000641795, ENST00000673760, ENST00000926452

RefSeq mRNA: 1 — MANE Select: NM_015030 NM_015030

CCDS: CCDS43227

Canonical transcript exons

ENST00000358350 — 64 exons

Exon	Start	End
ENSE00001539848	48497357	48499680
ENSE00001540043	48684673	48684795
ENSE00001540047	48710519	48710698
ENSE00001540051	48780078	48780279
ENSE00001694682	48502828	48502845
ENSE00003471073	48561468	48561636
ENSE00003473386	48570827	48570918
ENSE00003473763	48557453	48557712
ENSE00003475146	48505547	48505615
ENSE00003476486	48540353	48540960
ENSE00003476564	48539971	48540068
ENSE00003487898	48634291	48634490
ENSE00003492720	48544783	48544904
ENSE00003493277	48563948	48564102
ENSE00003498164	48510835	48510984
ENSE00003500291	48605741	48605833
ENSE00003506874	48528175	48528336
ENSE00003509473	48578973	48579241
ENSE00003511145	48620639	48620778
ENSE00003513178	48550592	48550704
ENSE00003515662	48576030	48576222
ENSE00003520130	48623126	48623179
ENSE00003525430	48562889	48562988
ENSE00003541558	48565531	48565691
ENSE00003543730	48515028	48515275
ENSE00003553400	48500030	48500220
ENSE00003562155	48549473	48549623
ENSE00003568068	48534545	48534685
ENSE00003568116	48521048	48521215
ENSE00003574662	48551494	48551578
ENSE00003577321	48553215	48553383
ENSE00003577451	48606438	48606606
ENSE00003582427	48567248	48567420
ENSE00003590222	48602020	48602121
ENSE00003591797	48510059	48510157
ENSE00003594105	48512481	48512688
ENSE00003596080	48546067	48546271
ENSE00003596573	48586621	48586728
ENSE00003608699	48527971	48528045
ENSE00003609168	48589745	48589877
ENSE00003613745	48581420	48581605
ENSE00003616614	48575117	48575241
ENSE00003619256	48603290	48603388
ENSE00003620431	48595590	48595698
ENSE00003621535	48543807	48543997
ENSE00003623666	48608987	48609067
ENSE00003624669	48595897	48596000
ENSE00003625293	48564933	48565043
ENSE00003631028	48580865	48580951
ENSE00003631517	48527477	48527653
ENSE00003643606	48619274	48619370
ENSE00003644444	48609744	48609823
ENSE00003646504	48501623	48501733
ENSE00003649107	48548690	48548793
ENSE00003658688	48542027	48542121
ENSE00003667046	48593930	48594016
ENSE00003667603	48582497	48582734
ENSE00003676052	48556978	48557118
ENSE00003676215	48573186	48573243
ENSE00003677802	48531156	48531353
ENSE00003681875	48535657	48535827
ENSE00003682868	48590659	48590830
ENSE00003683275	48547584	48547769
ENSE00003684505	48522901	48523104

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7279 / max 319.2052, expressed in 1770 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52091	13.3129	1757
52089	0.5976	277
52083	0.5041	48
52087	0.3743	163
52090	0.2656	114
52082	0.2571	69
52088	0.2436	93
52081	0.1727	62

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	98.03	gold quality
colonic epithelium	UBERON:0000397	97.48	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.48	gold quality
calcaneal tendon	UBERON:0003701	97.38	gold quality
colonic mucosa	UBERON:0000317	97.27	gold quality
rectum	UBERON:0001052	97.15	gold quality
sural nerve	UBERON:0015488	97.09	gold quality
inferior olivary complex	UBERON:0002127	96.37	gold quality
inferior vagus X ganglion	UBERON:0005363	95.75	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.28	gold quality
subthalamic nucleus	UBERON:0001906	95.05	gold quality
globus pallidus	UBERON:0001875	94.40	gold quality
transverse colon	UBERON:0001157	94.39	gold quality
medial globus pallidus	UBERON:0002477	94.34	gold quality
ileal mucosa	UBERON:0000331	94.27	gold quality
adrenal tissue	UBERON:0018303	94.22	gold quality
buccal mucosa cell	CL:0002336	94.14	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.11	gold quality
spinal cord	UBERON:0002240	93.85	gold quality
mucosa of transverse colon	UBERON:0004991	93.75	gold quality
medulla oblongata	UBERON:0001896	93.46	gold quality
bone marrow cell	CL:0002092	93.38	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.31	gold quality
lateral globus pallidus	UBERON:0002476	93.14	gold quality
tendon	UBERON:0000043	93.03	gold quality
cranial nerve II	UBERON:0000941	92.80	gold quality
postcentral gyrus	UBERON:0002581	92.51	gold quality
trabecular bone tissue	UBERON:0002483	92.49	gold quality
large intestine	UBERON:0000059	92.41	gold quality
colon	UBERON:0001155	92.20	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	102.18
E-HCAD-25	yes	53.14
E-GEOD-125970	yes	15.69
E-MTAB-10137	yes	3.80
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

238 targeting FRYL, 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-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
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-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817

Literature-anchored findings (GeneRIF, showing 3)

• Thus, t(4;11)(p12;q23) with MLL and FRYL involvement represents a new recurring 11q23 translocation, to date seen only in therapy-related acute leukemias. (PMID:17854671)
• The activation segment of NDR1 influences interaction with MST1/MST2 and Furry. (PMID:29983373)
• De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. (PMID:38479391)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fryl	ENSDARG00000040001
mus_musculus	Fryl	ENSMUSG00000070733
rattus_norvegicus	Fryl	ENSRNOG00000002248
drosophila_melanogaster	fry	FBGN0016081
caenorhabditis_elegans		WBGENE00004728

Paralogs (1): FRY (ENSG00000073910)

Protein

Protein identifiers

Protein furry homolog-like — O94915 (reviewed: O94915)

Alternative names: ALL1-fused gene from chromosome 4p12 protein

All UniProt accessions (8): O94915, A0A286YEZ9, A0A2C9F2R7, A0A669KB90, A0A6E1XQM6, D6R9B9, F2Z2S2, H0Y9X0

UniProt curated annotations — full annotation on UniProt →

Function. Plays a key role in maintaining the integrity of polarized cell extensions during morphogenesis, regulates the actin cytoskeleton and plays a key role in patterning sensory neuron dendritic fields by promoting avoidance between homologous dendrites as well as by limiting dendritic branching. May function as a transcriptional activator.

Tissue specificity. Widely expressed with higher expression in colon, placenta, brain and cells of lymphoid origin.

Disease relevance. Pan-Chung-Bellen syndrome (PCBS) [MIM:621049] An autosomal dominant disorder characterized by developmental delay, intellectual disability, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems. The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving FRYL is found in treatment-related acute lymphoblastic leukemia (ALL). Translocation t(4;11)(p12;q23) that forms a KMT2A/MLL1-FRYL fusion protein.

Similarity. Belongs to the furry protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
O94915-1	1	yes
O94915-2	2

RefSeq proteins (1): NP_055845* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016024	ARM-type_fold	Homologous_superfamily
IPR025481	Cell_Morphogen_C	Domain
IPR025614	Cell_morpho_N	Domain
IPR029473	MOR2-PAG1_mid	Domain
IPR039867	Furry/Tao3/Mor2	Family
IPR045842	Fry_C	Domain

Pfam: PF14222, PF14225, PF14228, PF19421

UniProt features (35 total): modified residue 12, sequence variant 8, region of interest 6, compositionally biased region 4, splice variant 2, initiator methionine 1, chain 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for O94915 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 2302 (breakpoint for insertion to form kmt2a/mll1-aff4 fusion protein)

Post-translational modifications (12): 2, 844, 1914, 1935, 1941, 1945, 1957, 1959, 1978, 2272, 2454, 2499

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 406 (showing top): GCM_MAP4K4, GCM_PTPRD, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MORF_MSH3, PEREZ_TP63_TARGETS, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEUROGENESIS, MORF_ESR1, MARTINEZ_RB1_TARGETS_UP, MORF_PPP5C, MORF_FANCG, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN

GO Biological Process (2): cell morphogenesis (GO:0000902), neuron projection development (GO:0031175)

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

GO Cellular Component (2): cell cortex (GO:0005938), site of polarized growth (GO:0030427)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure morphogenesis	1
neuron development	1
plasma membrane bounded cell projection organization	1
binding	1
cytoplasm	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1266 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRYL	IDH2	P48735	716
FRYL	STK38	Q15208	698
FRYL	IDH1	O75874	649
FRYL	MDH2	P40926	644
FRYL	HADH	Q16836	549
FRYL	PHF8	Q9UPP1	542
FRYL	MOB2	Q70IA6	474
FRYL	KDM1A	O60341	468
FRYL	SLAIN2	Q9P270	454
FRYL	SMARCA4	P51532	449
FRYL	CAB39	Q9Y376	444
FRYL	STK38L	Q9Y2H1	444
FRYL	NCKAP1	Q9Y2A7	436
FRYL	DCUN1D4	Q92564	434
FRYL	OPRM1	P35372	431

IntAct

94 interactions, top by confidence:

A	B	Type	Score
FRYL	YWHAB	psi-mi:“MI:0915”(physical association)	0.850
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
YWHAH	FAM83G	psi-mi:“MI:0914”(association)	0.710
FRYL	YWHAZ	psi-mi:“MI:0914”(association)	0.710
SLMAP	STRN	psi-mi:“MI:2364”(proximity)	0.710
HOMER1	FRYL	psi-mi:“MI:0914”(association)	0.640
FRYL	HOMER3	psi-mi:“MI:0915”(physical association)	0.630
HOMER3	FRYL	psi-mi:“MI:0915”(physical association)	0.630
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
NOTCH1	KDM1A	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
FRYL	SHANK3	psi-mi:“MI:0915”(physical association)	0.370
FRYL	PELI2	psi-mi:“MI:0915”(physical association)	0.370
TACC3	DHRS2	psi-mi:“MI:0914”(association)	0.350
MARK2	WDR46	psi-mi:“MI:0914”(association)	0.350
Csk	FRYL	psi-mi:“MI:0914”(association)	0.350
Mad2l1bp	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
Homer1	KIF3B	psi-mi:“MI:0914”(association)	0.350
Cep44	SSR3	psi-mi:“MI:0914”(association)	0.350
POLH	DHX16	psi-mi:“MI:0914”(association)	0.350
	TBKBP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (96): FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRYL (Two-hybrid), FRYL (Affinity Capture-MS), FRYL (Affinity Capture-MS), FRY (Affinity Capture-MS), HOMER1 (Affinity Capture-MS), FLNC (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4ITC5, A1L1F4, A4L9P7, E9Q8I9, F1MKX4, F1QFR9, F1R2X6, F8VPU6, O94915, P21359, P42345, P42346, P51593, P97526, Q04690, Q14997, Q29RF7, Q2HJG5, Q498H0, Q4KLU7, Q4QXM3, Q4VA53, Q5F3U9, Q5F3V3, Q5R6J0, Q5SSW2, Q5TBA9, Q5U241, Q5VYK3, Q6A026, Q6DDM4, Q6GP04, Q6NRP2, Q6P4S8, Q6PDI5, Q6TRW4, Q7PX35, Q7TMY8, Q7Z3U7, Q7Z6Z7

Diamond homologs: E9Q8I9, O94915, Q5TBA9, Q9VT28

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 93 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
Activation of BAD and translocation to mitochondria	7	90.3×	8e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	79.7×	1e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	79.7×	1e-10
Activation of BH3-only proteins	7	58.9×	6e-10
RHO GTPases activate PKNs	8	43.0×	5e-10
Intrinsic Pathway for Apoptosis	8	39.7×	6e-10
Apoptosis	10	28.5×	1e-10
FOXO-mediated transcription	5	28.5×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	28.6×	5e-05
intracellular protein localization	7	9.5×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	10
Uncertain significance	359
Likely benign	27
Benign	10

Top pathogenic / likely-pathogenic (24)

Variant ID	HGVS	Classification
3683209	NM_015030.2(FRYL):c.7775_7776del (p.Leu2592fs)	Pathogenic
3689517	NM_015030.2(FRYL):c.1311del (p.Thr439fs)	Pathogenic
3773723	NM_015030.2(FRYL):c.3568_3569insTT (p.Lys1190fs)	Pathogenic
3777339	NM_015030.2(FRYL):c.3240G>A (p.Trp1080Ter)	Pathogenic
3851846	NM_015030.2(FRYL):c.1348_1349del (p.Gly450fs)	Pathogenic
3851848	NM_015030.2(FRYL):c.4591C>T (p.Arg1531Ter)	Pathogenic
4026960	NM_015030.2(FRYL):c.4619_4620del (p.Ser1539_Tyr1540insTer)	Pathogenic
4260122	NM_015030.2(FRYL):c.5369dup (p.His1790fs)	Pathogenic
4669857	NM_015030.2(FRYL):c.568_571del (p.Lys191fs)	Pathogenic
4669861	NM_015030.2(FRYL):c.4256del (p.Leu1419fs)	Pathogenic
4669864	NM_015030.2(FRYL):c.989T>A (p.Leu330Ter)	Pathogenic
4669865	NM_015030.2(FRYL):c.3841G>T (p.Glu1281Ter)	Pathogenic
4687119	NM_015030.2(FRYL):c.1160C>G (p.Ser387Ter)	Pathogenic
4845399	NM_015030.2(FRYL):c.2147del (p.Leu716fs)	Pathogenic
1333288	NM_015030.2(FRYL):c.834+1G>C	Likely pathogenic
3341134	NM_015030.2(FRYL):c.1944G>A (p.Trp648Ter)	Likely pathogenic
4279791	NM_015030.2(FRYL):c.889dup (p.Tyr297fs)	Likely pathogenic
4279830	NM_015030.2(FRYL):c.112G>T (p.Glu38Ter)	Likely pathogenic
4281697	NM_015030.2(FRYL):c.1641-2A>G	Likely pathogenic
4291745	NM_015030.2(FRYL):c.4362dup (p.Gly1455fs)	Likely pathogenic
4686105	NM_015030.2(FRYL):c.-80-2A>G	Likely pathogenic
4813730	NM_015030.2(FRYL):c.5336dup (p.Ser1780fs)	Likely pathogenic
4813731	NM_015030.2(FRYL):c.1801C>T (p.Gln601Ter)	Likely pathogenic
4823309	NM_015030.2(FRYL):c.2721+2T>G	Likely pathogenic

SpliceAI

8900 predictions. Top by Δscore:

Variant	Effect	Δscore
4:48500221:C:CC	acceptor_gain	1.0000
4:48501620:TAC:T	donor_loss	1.0000
4:48501621:A:C	donor_loss	1.0000
4:48501622:C:T	donor_loss	1.0000
4:48501622:CCT:C	donor_gain	1.0000
4:48501733:CCTA:C	acceptor_loss	1.0000
4:48501734:C:A	acceptor_loss	1.0000
4:48501734:C:CC	acceptor_gain	1.0000
4:48501735:T:A	acceptor_loss	1.0000
4:48502876:A:C	acceptor_gain	1.0000
4:48505545:A:AC	donor_gain	1.0000
4:48505546:C:CC	donor_gain	1.0000
4:48505614:CA:C	acceptor_gain	1.0000
4:48505616:C:CC	acceptor_gain	1.0000
4:48507364:T:TA	donor_gain	1.0000
4:48510054:CTGA:C	donor_loss	1.0000
4:48510055:TGA:T	donor_loss	1.0000
4:48510056:GACCT:G	donor_loss	1.0000
4:48510057:A:C	donor_loss	1.0000
4:48510154:TCAG:T	acceptor_gain	1.0000
4:48510155:CAG:C	acceptor_gain	1.0000
4:48510155:CAGC:C	acceptor_gain	1.0000
4:48510158:C:CC	acceptor_gain	1.0000
4:48510833:A:AC	donor_gain	1.0000
4:48510834:C:CG	donor_gain	1.0000
4:48510834:CT:C	donor_gain	1.0000
4:48510980:ATTGT:A	acceptor_gain	1.0000
4:48510981:TTGT:T	acceptor_gain	1.0000
4:48510982:TGT:T	acceptor_gain	1.0000
4:48510983:GT:G	acceptor_gain	1.0000

AlphaMissense

19943 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:48531196:A:G	L2288S	1.000
4:48535734:A:G	W2163R	1.000
4:48535734:A:T	W2163R	1.000
4:48544888:A:G	W1766R	1.000
4:48544888:A:T	W1766R	1.000
4:48549597:A:G	W1554R	1.000
4:48549597:A:T	W1554R	1.000
4:48557079:A:G	W1389R	1.000
4:48557079:A:T	W1389R	1.000
4:48557644:A:G	W1312R	1.000
4:48557644:A:T	W1312R	1.000
4:48564968:A:G	W1136R	1.000
4:48564968:A:T	W1136R	1.000
4:48565623:A:G	W1080R	1.000
4:48565623:A:T	W1080R	1.000
4:48565634:A:G	L1076P	1.000
4:48565643:A:G	L1073P	1.000
4:48567340:A:G	L1026P	1.000
4:48570875:A:G	L983P	1.000
4:48575141:C:T	G941D	1.000
4:48589806:C:A	G527W	1.000
4:48589806:C:G	G527R	1.000
4:48589806:C:T	G527R	1.000
4:48589829:A:G	L519P	1.000
4:48590685:A:G	L494S	1.000
4:48512567:A:G	W2687R	0.999
4:48512567:A:T	W2687R	0.999
4:48523080:A:G	W2448R	0.999
4:48523080:A:T	W2448R	0.999
4:48527502:A:G	L2431S	0.999

dbSNP variants (sampled 300 via entrez): RS1000043394 (4:48756163 G>A), RS1000051785 (4:48522403 T>A), RS1000056313 (4:48615860 T>C,G), RS1000079991 (4:48651497 G>A), RS1000088466 (4:48616238 C>G), RS1000099639 (4:48558244 A>G), RS1000109995 (4:48705568 A>AC), RS1000122098 (4:48661694 G>A,T), RS1000128256 (4:48522743 T>C), RS1000221612 (4:48749889 T>C), RS1000233150 (4:48515312 C>T), RS1000258135 (4:48674777 T>C), RS1000261733 (4:48655039 T>A), RS1000276892 (4:48743184 T>C,G), RS1000285603 (4:48609541 G>A,T)

Disease associations

OMIM: gene MIM:620798 | disease phenotypes: MIM:621049

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	Autosomal dominant
Pan-Chung-Bellen syndrome	Strong	Autosomal dominant

Mondo (2): Pan-Chung-Bellen syndrome (MONDO:0975953), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (0):

HPO phenotypes

77 total (30 of 77 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000034	Hydrocele testis
HP:0000041	Chordee
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000252	Microcephaly
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000463	Anteverted nares
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000582	Upslanted palpebral fissure
HP:0000716	Depression
HP:0000717	Autism
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0000768	Pectus carinatum
HP:0000960	Sacral dimple
HP:0001249	Intellectual disability
HP:0001250	Seizure

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST005991_8	Platelet count	9.000000e-16
GCST008103_79	Bipolar disorder	1.000000e-06
GCST008839_210	Height	1.000000e-15
GCST011011_44	Youthful appearance (self-reported)	2.000000e-09
GCST90002384_134	Hemoglobin	1.000000e-11
GCST90002395_571	Mean platelet volume	2.000000e-10
GCST90002395_572	Mean platelet volume	7.000000e-15

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Cisplatin	affects cotreatment, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
geldanamycin	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	decreases reaction, affects binding	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
jinfukang	affects cotreatment, decreases expression	1
Acetaminophen	increases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Methotrexate	increases expression	1
Dihydrotestosterone	increases expression	1
Tobacco Smoke Pollution	decreases methylation	1
Valproic Acid	decreases expression	1
Aflatoxin B1	affects methylation	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SN93	HAP1 FRYL (-) 1	Cancer cell line	Male
CVCL_XN92	HAP1 FRYL (-) 2	Cancer cell line	Male
CVCL_XN93	HAP1 FRYL (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder