DYNC1I1

Summary

DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1, HGNC:2963) is a protein-coding gene on chromosome 7q21.3, encoding Cytoplasmic dynein 1 intermediate chain 1 (O14576). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function.

Enables spectrin binding activity. Involved in vesicle transport along microtubule. Located in several cellular components, including kinetochore; recycling endosome; and spindle pole.

Source: NCBI Gene 1780 — RefSeq curated summary.

At a glance

• Gene–disease (curated): split hand-foot malformation (Strong, GenCC)
• GWAS associations: 13
• Clinical variants (ClinVar): 147 total
• MANE Select transcript: NM_001135556

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2963
Approved symbol	DYNC1I1
Name	dynein cytoplasmic 1 intermediate chain 1
Location	7q21.3
Locus type	gene with protein product
Status	Approved
Aliases	DNCIC1
Ensembl gene	ENSG00000158560
Ensembl biotype	protein_coding
OMIM	603772
Entrez	1780

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 29 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000324972, ENST00000359388, ENST00000413338, ENST00000437599, ENST00000447467, ENST00000457059, ENST00000497626, ENST00000518089, ENST00000519371, ENST00000524053, ENST00000537881, ENST00000630942, ENST00000872653, ENST00000872654, ENST00000872655, ENST00000872656, ENST00000944547, ENST00000944548, ENST00000944549, ENST00000944550, ENST00000944551, ENST00000944552, ENST00000944553, ENST00000944554, ENST00000944555, ENST00000944556, ENST00000944557, ENST00000944558, ENST00000944559, ENST00000944560, ENST00000944561

RefSeq mRNA: 5 — MANE Select: NM_001135556 NM_001135556, NM_001135557, NM_001278421, NM_001278422, NM_004411

CCDS: CCDS47645, CCDS47646, CCDS5644, CCDS64718, CCDS64719

Canonical transcript exons

ENST00000447467 — 17 exons

Exon	Start	End
ENSE00000977226	95828057	95828116
ENSE00001039601	96080363	96080488
ENSE00001266986	96076057	96076197
ENSE00001690627	96097483	96098424
ENSE00001820403	95772554	95772773
ENSE00003462930	95977512	95977601
ENSE00003486253	96032667	96032780
ENSE00003536519	96035619	96035752
ENSE00003558443	96028175	96028321
ENSE00003562007	96039277	96039421
ENSE00003577296	95984815	95984977
ENSE00003639441	95987056	95987155
ENSE00003670965	95869883	95869998
ENSE00003673727	95995948	95996073
ENSE00003743559	95804721	95804837
ENSE00003743846	95810392	95810506
ENSE00003752504	95813247	95813337

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 99.13.

FANTOM5 (CAGE): breadth broad, TPM avg 11.7166 / max 442.8172, expressed in 905 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79761	8.6525	767
79760	1.8618	230
79763	0.5639	185
79764	0.4828	135
79762	0.1556	73

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.13	gold quality
pons	UBERON:0000988	98.81	gold quality
cortical plate	UBERON:0005343	98.39	gold quality
substantia nigra pars compacta	UBERON:0001965	98.36	gold quality
middle temporal gyrus	UBERON:0002771	98.05	gold quality
frontal pole	UBERON:0002795	97.91	gold quality
superior vestibular nucleus	UBERON:0007227	97.85	gold quality
cerebellar vermis	UBERON:0004720	97.84	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.69	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.67	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.65	gold quality
orbitofrontal cortex	UBERON:0004167	97.59	gold quality
Brodmann (1909) area 10	UBERON:0013541	97.45	gold quality
tibia	UBERON:0000979	97.22	gold quality
dorsal root ganglion	UBERON:0000044	97.09	gold quality
paraflocculus	UBERON:0005351	97.05	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.52	gold quality
prefrontal cortex	UBERON:0000451	96.47	gold quality
superior frontal gyrus	UBERON:0002661	96.45	gold quality
medulla oblongata	UBERON:0001896	96.17	gold quality
parietal lobe	UBERON:0001872	96.13	gold quality
postcentral gyrus	UBERON:0002581	96.07	gold quality
frontal cortex	UBERON:0001870	95.49	gold quality
cerebellum	UBERON:0002037	95.12	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.99	gold quality
dorsal plus ventral thalamus	UBERON:0001897	94.97	gold quality
cerebellar cortex	UBERON:0002129	94.94	gold quality
cerebellar hemisphere	UBERON:0002245	94.84	gold quality
ventral tegmental area	UBERON:0002691	94.78	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.63	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	9.52
E-GEOD-84465	yes	6.88
E-ANND-3	yes	6.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1

miRNA regulators (miRDB)

89 targeting DYNC1I1, 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-340-5P	100.00	72.50	4437
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-548AV-5P	99.60	70.84	2107

Literature-anchored findings (GeneRIF, showing 12)

• identification of a novel 24-kDa protein that binds directly to dynein intermediate chain [PLAC-24] (PMID:12006665)
• NDE1 and NDEL1 act upstream of LIS1 in dynein recruitment, and/or activation, on the membrane. (PMID:20048338)
• Both P-TEFb recruitment to the HIV long terminal repeat and enhanced HIV processivity were blocked by ERK inhibitor, but not by AKT and PI3K inhibitors. (PMID:21763495)
• the mRNA expression level of DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. (PMID:21767414)
• NCAM and dynein have roles in tethering dynamic microtubules and maintaining synaptic density in cortical neurons (PMID:23960070)
• Genome sequencing of the deletion breakpoints showed that the DLX5 and DLX6 genes are disomic but the putative DYNC1I1 exon 15 and 17 enhancers are deleted. (PMID:24459211)
• SQSTM1 is required for proper dynein motility and trafficking along microtubules. (PMID:25015291)
• Deletions of the exons with regulatory potential of DYNC1I1 are an example of the emerging role of exonic enhancer elements and their implications in congenital malformation syndromes (PMID:25231166)
• Thus, these findings demonstrate a tumor-suppressive function of DYNC1I1, and uncover new mechanistic insights into SK2 regulation which may have implications in targeting this enzyme as a therapeutic strategy in glioblastoma (PMID:30250299)
• TNPO2 operates downstream of DYNC1I1 and promotes gastric cancer cell proliferation and inhibits apoptosis. (PMID:31605449)
• Bioinformatics analysis identifies DYNC1I1 as prognosis marker in male patients with liver hepatocellular carcinoma. (PMID:34679093)
• DYNC1I1 acts as a promising prognostic biomarker and is correlated with immune infiltration in head and neck squamous cell carcinoma. (PMID:38072235)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	dync1i1b	ENSDARG00000060948
		ENSDARG00000098090
mus_musculus	Dync1i1	ENSMUSG00000029757
rattus_norvegicus	Dync1i1	ENSRNOG00000009700
drosophila_melanogaster	sw	FBGN0003654
drosophila_melanogaster	Sdic3	FBGN0052823
drosophila_melanogaster	Sdic2	FBGN0053497
drosophila_melanogaster	Sdic4	FBGN0053499
drosophila_melanogaster	Sdic1	FBGN0067861
drosophila_melanogaster	SdicA	FBGN0283432
drosophila_melanogaster	SdicB	FBGN0283433
drosophila_melanogaster	SdicC	FBGN0283434
caenorhabditis_elegans		WBGENE00015927

Paralogs (7): DYNC1I2 (ENSG00000077380), DYNC2I2 (ENSG00000119333), DNAI1 (ENSG00000122735), DYNC2I1 (ENSG00000126870), DNAI4 (ENSG00000152763), DNAI3 (ENSG00000162643), DNAI2 (ENSG00000171595)

Protein

Protein identifiers

Cytoplasmic dynein 1 intermediate chain 1 — O14576 (reviewed: O14576)

Alternative names: Cytoplasmic dynein intermediate chain 1, Dynein intermediate chain 1, cytosolic

All UniProt accessions (6): A0A0A0MTG2, A4D1I7, C9J3E7, E5RFE1, O14576, E5RJ75

UniProt curated annotations — full annotation on UniProt →

Function. Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCTN1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kinetochores.

Subunit / interactions. Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Interacts with DYNC1H1. Interacts with DYNLT1 and DYNLT3. Interacts with DCTN1. Interacts with MCRS1; the interaction is required for the proper distribution of centriolar satellites.

Subcellular location. Cytoplasm. Chromosome. Centromere. Kinetochore. Cytoskeleton. Spindle pole.

Similarity. Belongs to the dynein intermediate chain family.

Isoforms (5)

UniProt ID	Names	Canonical?
O14576-1	1	yes
O14576-2	2
O14576-3	3
O14576-4	4
O14576-5	5

RefSeq proteins (5): NP_001129028, NP_001129029, NP_001265350, NP_001265351, NP_004402 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR025956	DYNC1I1/DYNC1I2	Family
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR050687	Dynein_IC	Family

Pfam: PF00400, PF11540

UniProt features (46 total): modified residue 11, mutagenesis site 10, repeat 7, region of interest 5, compositionally biased region 4, splice variant 3, sequence variant 2, sequence conflict 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14576-F1	71.20	0.14

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 (11): 2, 50, 100, 105, 107, 111, 114, 176, 179, 197, 635

Mutagenesis-validated functional residues (10):

Position	Phenotype
148	disrupts interaction with dynlt1.
149	no effect on interaction with dynlt1.
150	disrupts interaction with dynlt1.
150	no effect on interaction with dynlt1.
152	no effect on interaction with dynlt1.
153	decreases interaction with dynlt1.
155	no effect on interaction with dynlt1.
156	decreases interaction with dynlt1.
157	no effect on interaction with dynlt1.
158	disrupts interaction with dynlt1.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2132295	MHC class II antigen presentation
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-3371497	HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811436	COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68877	Mitotic Prometaphase
R-HSA-9609690	HCMV Early Events
R-HSA-9646399	Aggrephagy
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation

MSigDB gene sets: 294 (showing top): RNGTGGGC_UNKNOWN, GOBP_CHROMOSOME_ORGANIZATION, GNF2_RTN1, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, BENPORATH_ES_WITH_H3K27ME3, GOBP_VESICLE_LOCALIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_NUCLEAR_DIVISION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_CHROMOSOME_SEPARATION, BROWNE_HCMV_INFECTION_16HR_UP, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, AAAYRNCTG_UNKNOWN

GO Biological Process (3): transport along microtubule (GO:0010970), vesicle transport along microtubule (GO:0047496), microtubule-based movement (GO:0007018)

GO Molecular Function (7): cytoskeletal motor activity (GO:0003774), microtubule motor activity (GO:0003777), microtubule binding (GO:0008017), spectrin binding (GO:0030507), dynein light chain binding (GO:0045503), dynein heavy chain binding (GO:0045504), protein binding (GO:0005515)

GO Cellular Component (15): kinetochore (GO:0000776), spindle pole (GO:0000922), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoplasmic dynein complex (GO:0005868), microtubule (GO:0005874), vesicle (GO:0031982), cytoplasmic ribonucleoprotein granule (GO:0036464), perinuclear region of cytoplasm (GO:0048471), recycling endosome (GO:0055037), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694), cytoskeleton (GO:0005856), dynein complex (GO:0030286)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Mitotic Prometaphase	2
Amplification of signal from the kinetochores	1
Adaptive Immune System	1
Mitotic Anaphase	1
Cellular responses to stress	1
RHO GTPase Effectors	1
ER to Golgi Anterograde Transport	1
Golgi-to-ER retrograde transport	1
M Phase	1
HCMV Infection	1
Selective autophagy	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular membraneless organelle	3
cytoplasm	3
protein binding	2
microtubule-based movement	1
cytoskeleton-dependent intracellular transport	1
microtubule-based transport	1
organelle transport along microtubule	1
vesicle cytoskeletal trafficking	1
microtubule-based process	1
molecular_function	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
tubulin binding	1
cytoskeletal protein binding	1
protein-containing complex binding	1
binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
spindle	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
dynein complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane-bounded organelle	1
ribonucleoprotein granule	1
endosome	1
chromosomal region	1
microtubule associated complex	1
catalytic complex	1

Protein interactions and networks

STRING

1872 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DYNC1I1	DYNC1H1	Q14204	966
DYNC1I1	DYNLL1	P63167	794
DYNC1I1	DYNC1LI2	O43237	779
DYNC1I1	NUDCD3	Q8IVD9	763
DYNC1I1	DYNC1LI1	Q9Y6G9	740
DYNC1I1	TUBB2A	Q13885	708
DYNC1I1	SEM1	Q6ZVN7	680
DYNC1I1	DYNLRB1	Q9NP97	659
DYNC1I1	DLX6	P56179	653
DYNC1I1	DYNLL2	Q96FJ2	628
DYNC1I1	DYNLT1	P63172	626
DYNC1I1	DYNLRB2	Q8TF09	601
DYNC1I1	DYNLT3	P51808	590
DYNC1I1	DLX5	P56178	578
DYNC1I1	CUX1	P39880	549

IntAct

53 interactions, top by confidence:

A	B	Type	Score
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
DYNC1I1	DYNLL2	psi-mi:“MI:0915”(physical association)	0.660
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
DYNC1I1	FAM83D	psi-mi:“MI:0915”(physical association)	0.550
DYNC1I1	DYNLRB1	psi-mi:“MI:0915”(physical association)	0.550
DYNC1I1	BICD2	psi-mi:“MI:0915”(physical association)	0.520
BICD2	DYNC1I1	psi-mi:“MI:0915”(physical association)	0.520
STAU1	DYNC1I1	psi-mi:“MI:0914”(association)	0.430
DYNC1I1	STAU1	psi-mi:“MI:0403”(colocalization)	0.430
Bicdl1	DYNC1I1	psi-mi:“MI:0403”(colocalization)	0.430
Bicdl1	DYNC1I1	psi-mi:“MI:0914”(association)	0.430
DYNC1I1	H3-4	psi-mi:“MI:0915”(physical association)	0.400
Nde1	DYNC1I1	psi-mi:“MI:0915”(physical association)	0.400
DYNC1I1	Nde1	psi-mi:“MI:0915”(physical association)	0.400
TP53	DYNC1I1	psi-mi:“MI:0915”(physical association)	0.400
DYNC1I1	TUBB1	psi-mi:“MI:0915”(physical association)	0.400
ANXA7	DYNC1I1	psi-mi:“MI:0915”(physical association)	0.370
DYNC1I1	CDKN1A	psi-mi:“MI:0915”(physical association)	0.370
DNM2	DYNC1I1	psi-mi:“MI:0915”(physical association)	0.370
WDCP	DYNC1I1	psi-mi:“MI:0915”(physical association)	0.370
CADM4	DYNC1I1	psi-mi:“MI:0915”(physical association)	0.370
DYNC1I1	DCTN1	psi-mi:“MI:0915”(physical association)	0.370
DYNC1I1	FAM110A	psi-mi:“MI:0915”(physical association)	0.370
DYNC1I1	FBP1	psi-mi:“MI:0915”(physical association)	0.370
DYNC1I1	MCC	psi-mi:“MI:0915”(physical association)	0.370
DYNC1I1	KAT7	psi-mi:“MI:0915”(physical association)	0.370
DYNC1I1	RAP1GAP	psi-mi:“MI:0915”(physical association)	0.370
DYNC1I1	RUNDC3B	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (169): DYNC1I1 (Reconstituted Complex), DYNC1I1 (Affinity Capture-Western), DYNC1I1 (Affinity Capture-MS), DYNC1I1 (Biochemical Activity), AMBRA1 (Affinity Capture-Western), DYNLL1 (Affinity Capture-Western), BECN1 (Affinity Capture-Western), DYNC1I1 (Affinity Capture-Western), DYNLL2 (Two-hybrid), DYNLRB1 (Two-hybrid), DYNC1I1 (Affinity Capture-Western), DYNC1I1 (Affinity Capture-Western), DCDC5 (Reconstituted Complex), NDEL1 (Reconstituted Complex), DCDC5 (Affinity Capture-Western)

ESM2 similar proteins: A2AC93, B2RY71, E7F6H7, E9PYY5, E9Q5M6, O14576, O43815, O55106, O88485, O88487, P27766, P36872, P70483, Q0III3, Q13409, Q13610, Q16959, Q16960, Q29RQ3, Q2HJ56, Q32KS2, Q32LP9, Q4QR00, Q4V8G4, Q5DQR4, Q5NVM2, Q5SQE2, Q5VTH9, Q5XIL8, Q5ZLK1, Q62871, Q63100, Q66HC9, Q6GPB9, Q8BPM2, Q8C0M8, Q8C0P5, Q8IVH8, Q8IWG1, Q92828

Diamond homologs: E7F6H7, O14576, O88485, O88487, O94518, P54703, Q0III3, Q13409, Q24246, Q29RQ3, Q5NVM2, Q62871, Q63100

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 47 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
COPI-independent Golgi-to-ER retrograde traffic	7	45.4×	4e-08
Aggrephagy	5	38.8×	1e-05
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	5	30.2×	2e-05
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	6	21.9×	1e-05
EML4 and NUDC in mitotic spindle formation	7	20.3×	6e-06
Resolution of Sister Chromatid Cohesion	7	18.9×	7e-06
COPI-mediated anterograde transport	5	17.2×	3e-04
RHO GTPases Activate Formins	7	17.0×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	28
Benign	37

Top pathogenic / likely-pathogenic (0)

SpliceAI

5457 predictions. Top by Δscore:

Variant	Effect	Δscore
7:95804717:CAAG:C	acceptor_loss	1.0000
7:95804718:A:AG	acceptor_gain	1.0000
7:95804718:AAG:A	acceptor_gain	1.0000
7:95804718:AAGG:A	acceptor_loss	1.0000
7:95804719:A:G	acceptor_gain	1.0000
7:95804719:AG:A	acceptor_gain	1.0000
7:95804719:AGGA:A	acceptor_loss	1.0000
7:95804720:G:GA	acceptor_loss	1.0000
7:95804720:G:GT	acceptor_gain	1.0000
7:95804720:GG:G	acceptor_gain	1.0000
7:95804835:G:GT	donor_gain	1.0000
7:95804835:GAG:G	donor_gain	1.0000
7:95804837:GGTA:G	donor_loss	1.0000
7:95804838:G:GC	donor_loss	1.0000
7:95804839:T:A	donor_loss	1.0000
7:95810387:TCTA:T	acceptor_loss	1.0000
7:95810388:CTA:C	acceptor_loss	1.0000
7:95810389:TAG:T	acceptor_loss	1.0000
7:95810390:A:AG	acceptor_gain	1.0000
7:95810390:A:C	acceptor_loss	1.0000
7:95810390:AGGCT:A	acceptor_gain	1.0000
7:95810391:G:GC	acceptor_loss	1.0000
7:95810391:G:GG	acceptor_gain	1.0000
7:95810391:GGC:G	acceptor_gain	1.0000
7:95810391:GGCT:G	acceptor_gain	1.0000
7:95810391:GGCTG:G	acceptor_gain	1.0000
7:95810502:TCTAG:T	donor_loss	1.0000
7:95810503:CTAGG:C	donor_loss	1.0000
7:95810504:TAGGT:T	donor_loss	1.0000
7:95810505:AG:A	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000008779 (7:95887770 A>G), RS1000013038 (7:96071249 A>G,T), RS1000017572 (7:95973219 T>C), RS1000035782 (7:95858891 GT>G), RS1000039950 (7:95887898 A>G), RS1000063605 (7:95986918 T>A), RS1000066915 (7:95845741 C>T), RS1000067895 (7:95978588 A>T), RS1000102528 (7:95978798 G>A,T), RS1000103531 (7:95803988 C>G), RS1000105146 (7:96022156 C>T), RS1000107205 (7:95786502 T>C), RS1000116603 (7:95977013 C>T), RS1000142275 (7:96035913 G>A), RS1000148191 (7:95935486 A>T)

Disease associations

OMIM: gene MIM:603772 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
split hand-foot malformation	Strong	Autosomal dominant

Mondo (1): split hand-foot malformation (MONDO:0016576)

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001534_6	Immune reponse to smallpox (secreted IL-10)	5.000000e-09
GCST001762_354	Obesity-related traits	2.000000e-06
GCST001762_767	Obesity-related traits	1.000000e-06
GCST002593_10	Dementia and core Alzheimer’s disease neuropathologic changes	2.000000e-06
GCST002593_37	Dementia and core Alzheimer’s disease neuropathologic changes	2.000000e-06
GCST003820_2	Knee osteoarthritis	6.000000e-06
GCST006979_133	Heel bone mineral density	2.000000e-11
GCST008156_101	Hip circumference adjusted for BMI	2.000000e-06
GCST008512_21	Multisite chronic pain	3.000000e-08
GCST010002_258	Refractive error	8.000000e-13
GCST010135_40	Oily fish consumption	1.000000e-08
GCST010140_30	Pork consumption	1.000000e-08
GCST012332_83	Multisite chronic pain	1.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0005109	energy expenditure
EFO:0006801	Alzheimer’s disease neuropathologic change
EFO:0009270	heel bone mineral density
EFO:0008039	BMI-adjusted hip circumference
EFO:0010100	multisite chronic pain
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	8
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Nickel	decreases expression	2
bisphenol A	affects cotreatment, decreases methylation	1
methylselenic acid	increases expression	1
beta-lapachone	increases expression	1
arsenite	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	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
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
Bortezomib	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	affects methylation	1
Cocaine	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Lead	affects expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Tetrachlorodibenzodioxin	increases expression	1
Thiram	increases expression	1
Triclosan	decreases expression	1
Tunicamycin	decreases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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