FIGNL1

Summary

FIGNL1 (fidgetin like 1, HGNC:13286) is a protein-coding gene on chromosome 7p12.2, encoding Fidgetin-like protein 1 (Q6PIW4). Involved in DNA double-strand break (DBS) repair via homologous recombination (HR).

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to the centrosome and inhibit ciliogenesis, and may regulate the proliferation and differentiation of osteoblasts.

Source: NCBI Gene 63979 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 101 total
• MANE Select transcript: NM_001287492

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13286
Approved symbol	FIGNL1
Name	fidgetin like 1
Location	7p12.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000132436
Ensembl biotype	protein_coding
OMIM	615383
Entrez	63979

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 33 protein_coding

ENST00000356889, ENST00000395556, ENST00000419119, ENST00000420829, ENST00000422854, ENST00000433017, ENST00000435566, ENST00000436590, ENST00000440350, ENST00000448788, ENST00000615084, ENST00000617389, ENST00000901206, ENST00000901207, ENST00000901208, ENST00000901209, ENST00000901210, ENST00000901211, ENST00000901212, ENST00000901213, ENST00000901214, ENST00000901215, ENST00000901216, ENST00000901217, ENST00000901218, ENST00000901219, ENST00000901220, ENST00000923587, ENST00000967372, ENST00000967373, ENST00000967374, ENST00000967375, ENST00000967376

RefSeq mRNA: 15 — MANE Select: NM_001287492 NM_001042762, NM_001287492, NM_001287493, NM_001287494, NM_001287495, NM_001287496, NM_001346558, NM_001346559, NM_001346560, NM_001346561, NM_001346562, NM_001346563, NM_001346564, NM_001346565, NM_022116

CCDS: CCDS5510

Canonical transcript exons

ENST00000433017 — 4 exons

Exon	Start	End
ENSE00001522086	50448181	50448289
ENSE00001764870	50449118	50449723
ENSE00001805150	50444133	50447297
ENSE00001887045	50450301	50450350

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 97.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9447 / max 130.1297, expressed in 1650 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84103	8.9447	1650

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.83	gold quality
oocyte	CL:0000023	96.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.85	gold quality
ventricular zone	UBERON:0003053	86.35	gold quality
ganglionic eminence	UBERON:0004023	85.16	gold quality
oviduct epithelium	UBERON:0004804	85.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.93	gold quality
cortical plate	UBERON:0005343	83.19	gold quality
smooth muscle tissue	UBERON:0001135	82.44	gold quality
calcaneal tendon	UBERON:0003701	82.26	gold quality
gingival epithelium	UBERON:0001949	81.75	gold quality
skin of hip	UBERON:0001554	81.49	gold quality
germinal epithelium of ovary	UBERON:0001304	81.15	gold quality
esophagus squamous epithelium	UBERON:0006920	80.07	gold quality
oral cavity	UBERON:0000167	79.99	gold quality
vermiform appendix	UBERON:0001154	79.97	gold quality
gingiva	UBERON:0001828	79.23	gold quality
endometrium	UBERON:0001295	78.92	gold quality
esophagus mucosa	UBERON:0002469	78.81	gold quality
ileal mucosa	UBERON:0000331	78.73	gold quality
ovary	UBERON:0000992	78.51	gold quality
lymph node	UBERON:0000029	78.38	gold quality
adrenal tissue	UBERON:0018303	78.32	gold quality
rectum	UBERON:0001052	77.87	gold quality
Brodmann (1909) area 23	UBERON:0013554	77.50	gold quality
parietal pleura	UBERON:0002400	77.33	gold quality
epithelium of nasopharynx	UBERON:0001951	77.26	gold quality
lower esophagus mucosa	UBERON:0035834	77.14	gold quality
visceral pleura	UBERON:0002401	77.05	gold quality
islet of Langerhans	UBERON:0000006	76.82	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6911	no	131.76
E-ANND-3	no	3.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

53 targeting FIGNL1, 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-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-4762-3P	99.43	69.72	2363

Literature-anchored findings (GeneRIF, showing 11)

• RAD51-binding protein fidgetin-like 1 (FIGNL1) is identified; FIGNL1 specifically interacts with RAD51 through its conserved RAD51 binding domain. Cells depleted of FIGNL1 show defective homologous recombination repair. (PMID:23754376)
• FIGL-1 is a new centrosomal protein and inhibits ciliogenesis. (PMID:27384458)
• Further research assessing the functions and mechanisms of FIGNL1, and other homologous recombination pathway genes may disclose unique pathological characteristics of SCLC, and help identify potential therapeutic targets and biomarkers (PMID:28260065)
• SWSAP1 protects RAD51 filaments by antagonizing the anti-recombinase, FIGNL1. (PMID:30926776)
• The results identify Fignl1 as a key dynein regulator required for motor circuit wiring. (PMID:31541015)
• FIGNL1 promotes nonsmall cell lung cancer cell proliferation. (PMID:33367932)
• FIGNL1 is a potential biomarker of cisplatin resistance in non-small cell lung cancer. (PMID:35791674)
• FIGNL1 AAA+ ATPase remodels RAD51 and DMC1 filaments in pre-meiotic DNA replication and meiotic recombination. (PMID:37891173)
• FIGNL1 Promotes Hepatocellular Carcinoma Formation via Remodeling ECM-receptor Interaction Pathway Mediated by HMMR. (PMID:37929733)
• FLIP(C1orf112)-FIGNL1 complex regulates RAD51 chromatin association to promote viability after replication stress. (PMID:38286805)
• Human AAA+ ATPase FIGNL1 suppresses RAD51-mediated ultra-fine bridge formation. (PMID:38597669)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	fignl1	ENSDARG00000016427
mus_musculus	Fignl1	ENSMUSG00000035455
rattus_norvegicus	Fignl1	ENSRNOG00000004440
drosophila_melanogaster	Fign	FBGN0031519
drosophila_melanogaster	kat-60L1	FBGN0037375
drosophila_melanogaster	Kat60	FBGN0040208
caenorhabditis_elegans	mei-1	WBGENE00003183
caenorhabditis_elegans		WBGENE00017981

Paralogs (9): SPAST (ENSG00000021574), KATNAL1 (ENSG00000102781), VPS4B (ENSG00000119541), VPS4A (ENSG00000132612), ATAD1 (ENSG00000138138), KATNAL2 (ENSG00000167216), FIGN (ENSG00000182263), KATNA1 (ENSG00000186625), FIGNL2 (ENSG00000261308)

Protein

Protein identifiers

Fidgetin-like protein 1 — Q6PIW4 (reviewed: Q6PIW4)

All UniProt accessions (7): Q6PIW4, C9JHJ4, C9JKI6, C9JP37, C9JSC4, C9JTB2, C9JTG6

UniProt curated annotations — full annotation on UniProt →

Function. Involved in DNA double-strand break (DBS) repair via homologous recombination (HR). Recruited at DSB sites independently of BRCA2, RAD51 and RAD51 paralogs in a H2AX-dependent manner. May regulate osteoblast proliferation and differentiation. May play a role in the control of male meiosis dynamic.

Subunit / interactions. Hexamer. Interacts (via N-terminal one-half region) with RAD51; the interaction is direct. Interacts (via N-terminal one-half region) with SPIDR (via the C-terminal region); the interaction is direct. Interacts with FIRRM; may regulate homologous recombination.

Subcellular location. Nucleus. Cytoplasm. Perinuclear region.

Domain organisation. The N-terminus is necessary for its recruitment to DNA damage sites.

Similarity. Belongs to the AAA ATPase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6PIW4-1	1	yes
Q6PIW4-2	2

RefSeq proteins (15): NP_001036227, NP_001274421, NP_001274422, NP_001274423, NP_001274424, NP_001274425, NP_001333487, NP_001333488, NP_001333489, NP_001333490, NP_001333491, NP_001333492, NP_001333493, NP_001333494, NP_071399 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003593	AAA+_ATPase	Domain
IPR003959	ATPase_AAA_core	Domain
IPR003960	ATPase_AAA_CS	Conserved_site
IPR015415	Spast_Vps4_C	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR041569	AAA_lid_3	Domain
IPR047858	FIGNL1_ATPase	Domain
IPR050304	MT-severing_AAA_ATPase	Family

Pfam: PF00004, PF09336, PF17862

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (47 total): helix 21, strand 5, mutagenesis site 4, turn 4, region of interest 2, sequence variant 2, binding site 2, modified residue 2, chain 1, sequence conflict 1, compositionally biased region 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3D8B	X-RAY DIFFRACTION	2
8R64	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PIW4-F1	68.13	0.36

Functional residue map

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

Ligand- & substrate-binding residues (2): 404; 444–449

Post-translational modifications (3): 259, 339, 225

Mutagenesis-validated functional residues (4):

Position	Phenotype
295	reduces interaction with rad51 and inhibits hr-mediated dna repair. strongly reduce, but does abolish, interaction with
340	reduces weakly interaction with rad51. strongly reduce, but does abolish, interaction with rad51; when associated with e
447	inhibits hr-mediated dna repair.
500	inhibits hr-mediated dna repair.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-912446	Meiotic recombination

MSigDB gene sets: 243 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, REACTOME_MEIOTIC_RECOMBINATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_RESPONSE_TO_IONIZING_RADIATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, PAL_PRMT5_TARGETS_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_MALE_GAMETE_GENERATION, KONG_E2F3_TARGETS

GO Biological Process (10): osteoblast differentiation (GO:0001649), male meiotic nuclear division (GO:0007140), regulation of double-strand break repair via homologous recombination (GO:0010569), osteoblast proliferation (GO:0033687), negative regulation of apoptotic process (GO:0043066), ATP metabolic process (GO:0046034), microtubule severing (GO:0051013), regulation of cell cycle (GO:0051726), cellular response to ionizing radiation (GO:0071479), negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)

GO Molecular Function (8): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), microtubule severing ATPase activity (GO:0008568), hydrolase activity (GO:0016787), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): nuclear chromosome (GO:0000228), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Resolution of D-Loop Structures	1
Meiosis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
microtubule cytoskeleton organization	2
ATP-dependent activity	2
nuclear lumen	2
ossification	1
cell differentiation	1
male gamete generation	1
meiotic cell cycle	1
meiotic nuclear division	1
regulation of DNA recombination	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair	1
cell population proliferation	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
cell cycle	1
regulation of cellular process	1
response to ionizing radiation	1
cellular response to radiation	1
intrinsic apoptotic signaling pathway	1
negative regulation of intracellular signal transduction	1
negative regulation of apoptotic signaling pathway	1
regulation of intrinsic apoptotic signaling pathway	1
metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
polypeptide conformation or assembly isomerase activity	1
catalytic activity, acting on a protein	1
microtubule destabilizing activity	1
catalytic activity	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
cation binding	1
nucleus	1
chromosome	1

Protein interactions and networks

STRING

2452 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FIGNL1	SPIDR	Q14159	744
FIGNL1	SWSAP1	Q6NVH7	571
FIGNL1	COBL	O75128	530
FIGNL1	SPMIP7	A4D263	520
FIGNL1	IKZF1	Q13422	520
FIGNL1	CFLAR	O15519	494
FIGNL1	FANCM	Q8IYD8	485
FIGNL1	MSH4	O15457	470
FIGNL1	VWC2	Q2TAL6	461
FIGNL1	ZPBP	Q9BS86	454
FIGNL1	SEC61G	P38384	437
FIGNL1	SPO11	Q9Y5K1	421
FIGNL1	RECQL4	O94761	400
FIGNL1	CCNB1IP1	Q9NPC3	398
FIGNL1	MUS81	Q96NY9	390

IntAct

49 interactions, top by confidence:

A	B	Type	Score
SPIDR	SWSAP1	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SPIDR	ZSWIM7	psi-mi:“MI:0915”(physical association)	0.660
ITGB1BP1	FIGNL1	psi-mi:“MI:0915”(physical association)	0.560
FIGNL1	ITGB1BP1	psi-mi:“MI:0915”(physical association)	0.560
FIGNL1	GCC1	psi-mi:“MI:0915”(physical association)	0.560
FIGNL1	FIRRM	psi-mi:“MI:0915”(physical association)	0.560
FIRRM	FIGNL1	psi-mi:“MI:0915”(physical association)	0.560
RHEX	NOS1AP	psi-mi:“MI:0914”(association)	0.530
SPIDR	FIGNL1	psi-mi:“MI:0915”(physical association)	0.490
FIGNL1	H1-4	psi-mi:“MI:0915”(physical association)	0.400
JPT2	FIGNL1	psi-mi:“MI:0915”(physical association)	0.400
IDH1	FIGNL1	psi-mi:“MI:0915”(physical association)	0.370
FIGNL1	KDM1A	psi-mi:“MI:0915”(physical association)	0.370
FIGNL1		psi-mi:“MI:0915”(physical association)	0.370
Chaf1a	CBX5	psi-mi:“MI:0914”(association)	0.350
FIGNL1	CALD1	psi-mi:“MI:0914”(association)	0.350
FIRRM	ALDH3A2	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
GP	IPO5	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
MIF	BLTP3B	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CD6	CIBAR1	psi-mi:“MI:0914”(association)	0.350
GYPA	HYKK	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350

BioGRID (88): FIGNL1 (Two-hybrid), FIGNL1 (Affinity Capture-MS), FIGNL1 (Affinity Capture-MS), CALD1 (Affinity Capture-MS), TSC22D3 (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), THAP11 (Affinity Capture-MS), FIGNL1 (Affinity Capture-MS), TDRD3 (Affinity Capture-MS), FIGNL1 (Affinity Capture-MS), FIGNL1 (Affinity Capture-MS), RAD51 (Affinity Capture-MS), FIGNL1 (Affinity Capture-MS), POTEI (Affinity Capture-MS), FIGNL1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMA9, A2VDN5, A4IHT0, A8XV40, B2GUY1, B3DL84, B3M301, B3P8A3, B4HGG6, B4K799, B4M0H8, B4QSF0, B7PXE3, F4IRW0, F4JEX5, F4JY37, O13839, O16299, O43078, Q05AS3, Q3B8D5, Q503S1, Q53WJ1, Q5HY92, Q64702, Q6AZT2, Q6DDU8, Q6DJS0, Q6GX84, Q6NW58, Q6PAD2, Q6PIW4, Q6PL18, Q700C2, Q719N1, Q7ZXG4, Q8BPY9, Q8CDM1, Q8I0P1, Q8IYT4

Diamond homologs: A0A8I6AGW3, A0LR74, A2VDN5, A4IHT0, A6NMB9, B2RYN7, B3M301, B3P8A3, B4F6J6, B4G437, B4HGG6, B4JII0, B4K799, B4M0H8, B4NBP4, B4PL32, B4QSF0, B7PXE3, D0FH76, D2VS83, E9QEA3, F4JEX5, F6QV99, J3QK54, O05209, O14114, O14325, O15381, O16299, O28972, O57940, O60058, P03974, P23787, P25694, P32794, P36966, P40340, P46462, P54609

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	90
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

544 predictions. Top by Δscore:

Variant	Effect	Δscore
7:50447294:GGTT:G	acceptor_gain	1.0000
7:50447295:GTT:G	acceptor_gain	1.0000
7:50447296:TT:T	acceptor_gain	1.0000
7:50447297:TC:T	acceptor_loss	1.0000
7:50447298:C:CC	acceptor_gain	1.0000
7:50447295:GTTCT:G	acceptor_gain	0.9900
7:50447299:T:C	acceptor_loss	0.9900
7:50448179:A:AC	donor_gain	0.9900
7:50448180:C:CC	donor_gain	0.9900
7:50448291:T:A	acceptor_loss	0.9900
7:50447293:AGGTT:A	acceptor_gain	0.9800
7:50447300:A:C	acceptor_gain	0.9800
7:50447304:C:CT	acceptor_gain	0.9800
7:50447308:C:CT	acceptor_gain	0.9800
7:50448173:GAACT:G	donor_loss	0.9800
7:50448174:AACTT:A	donor_loss	0.9800
7:50448176:CT:C	donor_loss	0.9800
7:50448177:TT:T	donor_loss	0.9800
7:50448178:TACT:T	donor_loss	0.9800
7:50448179:AC:A	donor_loss	0.9800
7:50448285:CTATC:C	acceptor_gain	0.9800
7:50448288:TC:T	acceptor_gain	0.9800
7:50448289:CC:C	acceptor_gain	0.9800
7:50448290:C:CC	acceptor_gain	0.9800
7:50449554:A:AC	donor_gain	0.9800
7:50449555:C:CC	donor_gain	0.9800
7:50447294:GGTTC:G	acceptor_gain	0.9700
7:50448298:C:CT	acceptor_gain	0.9700
7:50449533:TAAAA:T	donor_gain	0.9700
7:50447296:TTCTA:T	acceptor_gain	0.9600

AlphaMissense

4435 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:50445618:C:G	R557T	0.999
7:50445624:G:T	A555D	0.999
7:50445650:A:C	N546K	0.999
7:50445650:A:T	N546K	0.999
7:50445725:T:A	K521N	0.999
7:50445725:T:G	K521N	0.999
7:50445786:T:A	E501V	0.999
7:50445798:A:T	I497K	0.999
7:50445924:G:T	A455D	0.999
7:50445936:C:T	G451D	0.999
7:50445948:T:A	K447I	0.999
7:50445958:C:A	G444W	0.999
7:50445966:C:T	G441D	0.999
7:50445967:C:G	G441R	0.999
7:50446007:A:C	F427L	0.999
7:50446007:A:T	F427L	0.999
7:50446009:A:G	F427L	0.999
7:50445292:A:G	W666R	0.998
7:50445292:A:T	W666R	0.998
7:50445614:T:A	R558S	0.998
7:50445614:T:G	R558S	0.998
7:50445615:C:G	R558T	0.998
7:50445617:T:A	R557S	0.998
7:50445617:T:G	R557S	0.998
7:50445627:G:T	A554D	0.998
7:50445645:G:T	P548Q	0.998
7:50445648:C:G	R547P	0.998
7:50445654:G:A	T545I	0.998
7:50445660:C:T	G543E	0.998
7:50445727:T:C	K521E	0.998

dbSNP variants (sampled 300 via entrez): RS1000652834 (7:50444467 G>A,T), RS1000752616 (7:50450472 C>A,G,T), RS1001047255 (7:50449585 T>C,G), RS1001206352 (7:50450020 C>G,T), RS1001581332 (7:50452185 G>A), RS1001718660 (7:50451714 A>G), RS1001902365 (7:50444694 C>A), RS1002009155 (7:50450930 C>A,T), RS1002208920 (7:50450807 G>T), RS1002563162 (7:50447688 A>T), RS1003666208 (7:50452187 G>A), RS1004305862 (7:50444248 C>T), RS1004721473 (7:50446010 G>C,T), RS1004860572 (7:50445658 C>T), RS1005005336 (7:50451481 C>T)

Disease associations

OMIM: gene MIM:615383 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000879_33	Crohn’s disease	1.000000e-08
GCST005950_9	Body mass index x sex x age interaction (4df test)	2.000000e-09
GCST005951_200	Body mass index	2.000000e-08
GCST005951_57	Body mass index	3.000000e-10
GCST005953_3	Body mass index (age <50)	8.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Benzo(a)pyrene	increases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects expression, increases expression	2
Cyclosporine	affects expression, increases expression	2
Aflatoxin B1	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
beta-lapachone	decreases expression	1
arsenite	increases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Dasatinib	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases 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_E1XC	HAP1 FIGNL1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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