EXOC7

Summary

EXOC7 (exocyst complex component 7, HGNC:23214) is a protein-coding gene on chromosome 17q25.1, encoding Exocyst complex component 7 (Q9UPT5). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. It is a selective cancer dependency (DepMap: 25.2% of cell lines).

The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4.

Source: NCBI Gene 23265 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with seizures and brain atrophy (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 202 total — 5 pathogenic
• Phenotypes (HPO): 21
• Cancer dependency (DepMap): dependent in 25.2% of screened cell lines
• MANE Select transcript: NM_001013839

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23214
Approved symbol	EXOC7
Name	exocyst complex component 7
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	EXO70, KIAA1067, YJL085W, Exo70p, BLOM4
Ensembl gene	ENSG00000182473
Ensembl biotype	protein_coding
OMIM	608163
Entrez	23265

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 23 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000332065, ENST00000335146, ENST00000357231, ENST00000405068, ENST00000405575, ENST00000406660, ENST00000411744, ENST00000420116, ENST00000442951, ENST00000460476, ENST00000465252, ENST00000467586, ENST00000467929, ENST00000486053, ENST00000494787, ENST00000589210, ENST00000589507, ENST00000591724, ENST00000592559, ENST00000607838, ENST00000634349, ENST00000891870, ENST00000891871, ENST00000930301, ENST00000930302, ENST00000945913, ENST00000945914, ENST00000945915, ENST00000945916, ENST00000945917, ENST00000945918

RefSeq mRNA: 10 — MANE Select: NM_001013839 NM_001013839, NM_001145297, NM_001145298, NM_001145299, NM_001282313, NM_001282314, NM_001375974, NM_001375975, NM_001375976, NM_015219

CCDS: CCDS11741, CCDS32738, CCDS45781, CCDS45782, CCDS45783, CCDS45784, CCDS74164

Canonical transcript exons

ENST00000589210 — 19 exons

Exon	Start	End
ENSE00001902574	76103633	76103787
ENSE00002783892	76089175	76089320
ENSE00002857631	76091143	76091235
ENSE00002964859	76094414	76094581
ENSE00003474066	76088771	76088923
ENSE00003497129	76084006	76084139
ENSE00003501174	76081016	76083750
ENSE00003517110	76087654	76087720
ENSE00003517272	76088060	76088122
ENSE00003561265	76084248	76084289
ENSE00003574255	76084517	76084580
ENSE00003579023	76101679	76101863
ENSE00003579493	76088464	76088562
ENSE00003612599	76086080	76086145
ENSE00003614016	76085314	76085409
ENSE00003621736	76101271	76101376
ENSE00003623579	76085677	76085797
ENSE00003642222	76097796	76098018
ENSE00003746081	76103361	76103426

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 98.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.5280 / max 89.9314, expressed in 1808 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168168	15.9469	1804
168167	1.8854	1153
168166	1.6958	1083

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.52	gold quality
cortical plate	UBERON:0005343	96.76	gold quality
ganglionic eminence	UBERON:0004023	96.55	gold quality
parotid gland	UBERON:0001831	96.24	gold quality
ventricular zone	UBERON:0003053	96.10	gold quality
right lobe of thyroid gland	UBERON:0001119	95.94	gold quality
stromal cell of endometrium	CL:0002255	95.71	gold quality
lateral globus pallidus	UBERON:0002476	95.66	gold quality
pituitary gland	UBERON:0000007	95.65	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.57	gold quality
left lobe of thyroid gland	UBERON:0001120	95.45	gold quality
thyroid gland	UBERON:0002046	95.34	gold quality
right frontal lobe	UBERON:0002810	95.33	gold quality
adenohypophysis	UBERON:0002196	95.26	gold quality
pancreatic ductal cell	CL:0002079	95.14	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.09	gold quality
cerebellar cortex	UBERON:0002129	95.05	gold quality
cerebellar hemisphere	UBERON:0002245	95.02	gold quality
apex of heart	UBERON:0002098	94.98	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.87	gold quality
granulocyte	CL:0000094	94.83	gold quality
prefrontal cortex	UBERON:0000451	94.78	gold quality
cerebellum	UBERON:0002037	94.78	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.73	gold quality
substantia nigra pars compacta	UBERON:0001965	94.70	gold quality
gall bladder	UBERON:0002110	94.67	gold quality
right coronary artery	UBERON:0001625	94.66	gold quality
superior vestibular nucleus	UBERON:0007227	94.60	gold quality
frontal cortex	UBERON:0001870	94.51	gold quality
descending thoracic aorta	UBERON:0002345	94.50	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.43
E-GEOD-70580	no	511.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

61 targeting EXOC7, 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-5193	100.00	67.26	1744
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-485-5P	99.10	64.78	1889

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 25.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 17)

• BIG2 and Exo70 interact in trans-Golgi network and centrosomes, as well as in exocyst structures or complexes that move along microtubules to the plasma membrane. (PMID:15705715)
• PIPKIgamma and phosphatidyl inositol phosphate pools at nascent E-cadherin contacts cue Exo70 targeting and orient the tethering of exocyst-associated E-cadherin (PMID:22049025)
• Exocyst component Exo70 is a direct substrate of the extracellular signal-regulated kinases 1/2, their phosphorylation enhances the binding of Exo70 to other exocyst components and promotes the assembly of the exocyst complex. (PMID:22595671)
• Exo70 is involved in caveolin-1 recycling to the plasma membrane during re-adhesion of the cells to the substratum. (PMID:23300727)
• Exo70 thus represents a membrane-bending protein that may couple actin dynamics and plasma membrane remodeling for morphogenesis. (PMID:23948253)
• We show that Exo70, a component of the exocyst complex, undergoes isoform switching mediated by ESRP1, a pre-mRNA splicing factor that regulates epithelial mesenchymal transition. (PMID:24331928)
• GIV directly and constitutively binds the exocyst complex subunit Exo-70 and also associates with GLUT4-storage vesicles (GSVs) exclusively upon insulin stimulation. (PMID:26514725)
• the results identify Exo70 as a novel transcriptional target of HNF4alpha to promote cell cycle progression in hepatoma, thus provide a basis for the development of therapeutic strategies for hepatocellular carcinoma. (PMID:26848864)
• the expression of CTTN, Exo70 and MMP-9 in HCC cells was detected and their relations with the ability of migration and invasion of hepatoma carcinoma cells were evaluated (PMID:27025610)
• studies have implicated the exocyst in a wide range of cellular processes. Particularly, research on the Exo70 subunit of the complex has linked the function of the exocyst in exocytosis to cell adhesion, migration and invasion. (PMID:28489961)
• Exo70 might be a promising negative prognostic factor and a potential therapeutic target for colon cancer. (PMID:28698570)
• Authors reveal a novel role for exocyst complex component 70 in regulation of neurotensin vesicle exocytosis through its interaction with the extracellular signal-regulated kinase 1 and 2 signaling pathway. (PMID:30917119)
• ULK1 phosphorylation inhibits Exo70 homo-oligomerization as well as its assembly to the exocyst complex, which are needed for cell protrusion formation and matrix metalloproteinases secretion during cell invasion. (PMID:31913283)
• Appraising the Value of Serum and Serum-Derived Exosomal LncRNA-EXOC7 as a Promising Biomarker in Cervical Cancer. (PMID:32658426)
• A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3. (PMID:33542212)
• Androgen receptor decreases renal cell carcinoma bone metastases via suppressing the osteolytic formation through altering a novel circEXOC7 regulatory axis. (PMID:33783995)
• TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation. (PMID:39146185)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	exoc7	ENSDARG00000087229
mus_musculus	Exoc7	ENSMUSG00000020792
rattus_norvegicus	Exoc7	ENSRNOG00000070201
drosophila_melanogaster	Exo70	FBGN0266667
caenorhabditis_elegans	exoc-7	WBGENE00016606

Protein

Protein identifiers

Exocyst complex component 7 — Q9UPT5 (reviewed: Q9UPT5)

Alternative names: Exocyst complex component Exo70

All UniProt accessions (9): Q9UPT5, A0A0A0MRE1, A0A0A0MSB8, B4DJ07, B5MCY9, C9JKC2, C9JME6, K7ENP8, K7ERQ5

UniProt curated annotations — full annotation on UniProt →

Function. Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion. It is required for neuron survival and plays an essential role in cortical development.

Subunit / interactions. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts with ARHQ in a GTP-dependent manner. Interacts with RAB11FIP3.

Subcellular location. Cytoplasm. Cytosol. Cell membrane. Midbody. Midbody ring.

Tissue specificity. Abundant in the ventricular zone, the outer subventricular zone and the cortical plate of the fetal cortex.

Disease relevance. Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) [MIM:619072] An autosomal recessive disorder characterized by brain atrophy, seizures, and developmental delay. Disease severity is variable. Severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The N-terminus is involved in SEC8 and ARHQ binding. The C-terminus is required for translocation to the plasma membrane.

Miscellaneous. May be due to intron retention.

Similarity. Belongs to the EXO70 family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9UPT5-3	3	yes
Q9UPT5-1	1
Q9UPT5-2	2
Q9UPT5-4	4
Q9UPT5-5	5
Q9UPT5-6	6

RefSeq proteins (10): NP_001013861, NP_001138769, NP_001138770, NP_001138771, NP_001269242, NP_001269243, NP_001362903, NP_001362904, NP_001362905, NP_056034 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004140	Exo70	Family
IPR016159	Cullin_repeat-like_dom_sf	Homologous_superfamily
IPR046364	Exo70_C	Domain

Pfam: PF03081, PF20669

UniProt features (17 total): splice variant 6, sequence conflict 4, sequence variant 2, coiled-coil region 2, chain 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPT5-F1	83.41	0.72

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): 133

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-264876	Insulin processing
R-HSA-5620916	VxPx cargo-targeting to cilium

MSigDB gene sets: 251 (showing top): GOBP_MITOTIC_CYTOKINESIS, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_VESICLE_LOCALIZATION, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_CYTOKINETIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_MACROAUTOPHAGY, GOBP_MEMBRANE_DOCKING, GOBP_EXOCYTOSIS, GOBP_VESICLE_DOCKING_INVOLVED_IN_EXOCYTOSIS, GOBP_CYTOKINESIS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION

GO Biological Process (10): mitotic cytokinesis (GO:0000281), exocytosis (GO:0006887), obsolete vesicle docking involved in exocytosis (GO:0006904), regulation of macroautophagy (GO:0016241), protein transmembrane transport (GO:0071806), membrane fission (GO:0090148), obsolete vesicle tethering involved in exocytosis (GO:0090522), positive regulation of mitotic cytokinetic process (GO:1903438), regulation of entry of bacterium into host cell (GO:2000535), protein transport (GO:0015031)

GO Molecular Function (3): phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)

GO Cellular Component (10): exocyst (GO:0000145), microtubule organizing center (GO:0005815), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), midbody (GO:0030496), growth cone membrane (GO:0032584), centriolar satellite (GO:0034451), Flemming body (GO:0090543), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Membrane Trafficking	1
Peptide hormone metabolism	1
Cargo trafficking to the periciliary membrane	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	8
mitotic cell cycle	1
cytoskeleton-dependent cytokinesis	1
mitotic cell cycle process	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
regulation of autophagy	1
macroautophagy	1
protein transport	1
transmembrane transport	1
membrane organization	1
mitotic cytokinetic process	1
regulation of mitotic cytokinetic process	1
positive regulation of mitotic cytokinesis	1
entry of bacterium into host cell	1
modulation by symbiont of entry into host	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
phosphatidylinositol phosphate binding	1
phosphatidylinositol bisphosphate binding	1
protein binding	1
molecular adaptor activity	1
binding	1
cell cortex	1
vesicle tethering complex	1
microtubule cytoskeleton	1
cytoplasm	1
membrane	1
cell periphery	1
plasma membrane	1
growth cone	1
centrosome	1
midbody	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2000 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXOC7	EXOC4	Q96A65	999
EXOC7	EXOC6	Q8TAG9	999
EXOC7	EXOC3	O60645	999
EXOC7	EXOC1	Q9NV70	999
EXOC7	EXOC2	Q96KP1	998
EXOC7	EXOC5	O00471	998
EXOC7	EXOC8	Q8IYI6	998
EXOC7	RHOQ	P17081	989
EXOC7	CDC42	P21181	960
EXOC7	IQGAP1	P46940	846
EXOC7	RAB11A	P24410	836
EXOC7	ARF6	P26438	834
EXOC7	COG3	Q96JB2	792
EXOC7	ZACN	Q401N2	791
EXOC7	RAB11FIP3	O75154	788

IntAct

172 interactions, top by confidence:

A	B	Type	Score
ODAD1	HGS	psi-mi:“MI:0914”(association)	0.850
EXOC6	EXOC5	psi-mi:“MI:0914”(association)	0.840
EXOC6B	EXOC5	psi-mi:“MI:0914”(association)	0.790
EXOC3	EXOC5	psi-mi:“MI:0914”(association)	0.790
EXOC7	IFT20	psi-mi:“MI:0915”(physical association)	0.740
IFT20	EXOC7	psi-mi:“MI:0915”(physical association)	0.740
EXOC1	EXOC5	psi-mi:“MI:0914”(association)	0.730
EXOC8	EXOC5	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
EXOC7	HGS	psi-mi:“MI:0915”(physical association)	0.670
HGS	EXOC7	psi-mi:“MI:0915”(physical association)	0.670
EXOC7	KXD1	psi-mi:“MI:0915”(physical association)	0.660
IFT57	IFT56	psi-mi:“MI:0914”(association)	0.640
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640

BioGRID (209): EXOC7 (Two-hybrid), EXOC7 (Two-hybrid), EXOC7 (Two-hybrid), IFT20 (Two-hybrid), SSC5D (Two-hybrid), EXOC7 (Affinity Capture-RNA), EXOC7 (Affinity Capture-RNA), EXOC7 (Affinity Capture-RNA), EXOC7 (Affinity Capture-MS), EXOC7 (Affinity Capture-MS), EXOC7 (Affinity Capture-MS), EXOC7 (Affinity Capture-MS), EXOC7 (Affinity Capture-MS), EXOC7 (Affinity Capture-MS), EXOC7 (Two-hybrid)

ESM2 similar proteins: A0A396JG59, A0SVK0, A5HEI1, C6L7U1, D1FP53, D1FP57, E7FC72, F4JT76, F4KG58, O04203, O13683, O13705, O35250, O44219, O48626, O54922, O74562, O74846, O74854, O74990, O75006, O94677, P19658, Q0WQ75, Q10339, Q19642, Q21270, Q22639, Q5XVI1, Q61JT8, Q6FJW2, Q754H0, Q8GXP1, Q8H1U5, Q8RX56, Q8VY27, Q9C6G0, Q9FFX6, Q9FNR3, Q9FY95

Diamond homologs: E7FC72, O35250, O54922, Q9FGH9, Q9UPT5, Q9VSJ8, Q5AH25, Q6BT51, Q754H0, Q6CC70, Q6FJW2

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
EXOC7	up-regulates	SLC2A4
RHOQ	up-regulates	EXOC7	binding
MAPK1	up-regulates	EXOC7	phosphorylation
EXOC7	“form complex”	“Exocyst_EXOC6B variant”	binding
EXOC7	“form complex”	“Exocyst_EXOC6 variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 149 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
VxPx cargo-targeting to cilium	7	42.8×	8e-08
Insulin processing	7	37.6×	1e-07
Cargo trafficking to the periciliary membrane	5	14.6×	6e-04
Translocation of SLC2A4 (GLUT4) to the plasma membrane	8	14.5×	1e-05
TNFR2 non-canonical NF-kB pathway	5	10.7×	2e-03
Cilium Assembly	5	6.4×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle docking involved in exocytosis	8	42.8×	3e-09
Golgi to plasma membrane transport	8	35.7×	8e-09
membrane fission	9	29.4×	4e-09
mitotic cytokinesis	9	18.5×	2e-07
non-motile cilium assembly	7	16.1×	3e-05
exocytosis	11	13.2×	1e-07
cilium assembly	10	5.8×	8e-04
protein transport	14	4.9×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	130
Likely benign	26
Benign	3

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
4251971	NM_001013839.4(EXOC7):c.1045C>T (p.Gln349Ter)	Pathogenic
983545	NM_001013839.4(EXOC7):c.809-2A>G	Pathogenic
983546	NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del)	Pathogenic
983547	NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del)	Pathogenic
983548	NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr)	Pathogenic

SpliceAI

3653 predictions. Top by Δscore:

Variant	Effect	Δscore
17:76081683:C:G	donor_gain	1.0000
17:76081751:GCTCA:G	donor_gain	1.0000
17:76081880:A:AG	acceptor_gain	1.0000
17:76081881:G:GG	acceptor_gain	1.0000
17:76083750:CCTGA:C	acceptor_loss	1.0000
17:76083929:C:A	donor_gain	1.0000
17:76084004:A:AC	donor_gain	1.0000
17:76084005:C:CC	donor_gain	1.0000
17:76084005:CTT:C	donor_gain	1.0000
17:76084007:T:TA	donor_gain	1.0000
17:76084243:CTCA:C	donor_loss	1.0000
17:76084244:TCAC:T	donor_loss	1.0000
17:76084245:CA:C	donor_loss	1.0000
17:76084246:A:AC	donor_gain	1.0000
17:76084246:A:T	donor_loss	1.0000
17:76084247:C:CC	donor_gain	1.0000
17:76084290:C:CC	acceptor_gain	1.0000
17:76084299:C:CT	acceptor_gain	1.0000
17:76084299:C:T	acceptor_gain	1.0000
17:76084300:A:T	acceptor_gain	1.0000
17:76084307:A:C	acceptor_gain	1.0000
17:76084577:CCAG:C	acceptor_gain	1.0000
17:76084578:CAG:C	acceptor_gain	1.0000
17:76084578:CAGC:C	acceptor_gain	1.0000
17:76084579:AG:A	acceptor_gain	1.0000
17:76084581:C:CC	acceptor_gain	1.0000
17:76084585:C:CT	acceptor_gain	1.0000
17:76085308:TCTCA:T	donor_loss	1.0000
17:76085309:CTCAC:C	donor_loss	1.0000
17:76085310:TCAC:T	donor_loss	1.0000

AlphaMissense

4540 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:76084036:A:T	V692D	1.000
17:76084094:A:G	W673R	1.000
17:76084094:A:T	W673R	1.000
17:76084260:C:A	K653N	1.000
17:76084260:C:G	K653N	1.000
17:76084262:T:C	K653E	1.000
17:76084579:A:G	W623R	1.000
17:76084579:A:T	W623R	1.000
17:76085683:A:G	L588P	1.000
17:76085706:G:C	N580K	1.000
17:76085706:G:T	N580K	1.000
17:76085709:G:C	N579K	1.000
17:76085709:G:T	N579K	1.000
17:76085716:A:G	L577P	1.000
17:76085718:G:C	F576L	1.000
17:76085718:G:T	F576L	1.000
17:76085719:A:G	F576S	1.000
17:76085720:A:G	F576L	1.000
17:76085757:C:A	K563N	1.000
17:76085757:C:G	K563N	1.000
17:76085767:A:C	L560W	1.000
17:76085779:A:G	L556P	1.000
17:76087665:A:G	L524P	1.000
17:76087698:A:G	L513P	1.000
17:76087707:A:G	L510P	1.000
17:76088085:C:A	G497V	1.000
17:76088085:C:T	G497D	1.000
17:76088086:C:G	G497R	1.000
17:76088489:A:G	L476P	1.000
17:76088501:C:T	G472D	1.000

dbSNP variants (sampled 300 via entrez): RS1000024472 (17:76102055 C>G), RS1000057755 (17:76104132 A>T), RS1000241750 (17:76100918 T>C), RS1000309336 (17:76091975 G>A), RS1000348822 (17:76086051 G>A), RS1000607854 (17:76081563 G>A,T), RS1000650918 (17:76080643 A>G), RS1000682674 (17:76084785 G>C), RS1000871865 (17:76089965 G>A), RS1000955864 (17:76095079 G>C), RS1001059185 (17:76102959 A>C,G), RS1001113031 (17:76094727 T>A,C), RS1001304809 (17:76105432 T>C), RS1001389382 (17:76089766 T>C), RS1001631539 (17:76105677 G>A)

Disease associations

OMIM: gene MIM:608163 | disease phenotypes: MIM:619072

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with seizures and brain atrophy	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Moderate	AR

Mondo (1): neurodevelopmental disorder with seizures and brain atrophy (MONDO:0033658)

Orphanet (0):

HPO phenotypes

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

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0001263	Global developmental delay
HP:0001321	Cerebellar hypoplasia
HP:0001838	Rocker bottom foot
HP:0002079	Hypoplasia of the corpus callosum
HP:0002120	Cerebral cortical atrophy
HP:0002365	Hypoplasia of the brainstem
HP:0002804	Arthrogryposis multiplex congenita
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0007359	Focal-onset seizure
HP:0009879	Simplified gyral pattern
HP:0011461	Fetal onset
HP:0011463	Childhood onset
HP:0012695	Decreased thalamic volume
HP:0032794	Myoclonic seizure

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010989_275	Body size at age 10	2.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009819	comparative body size at age 10, self-reported

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, affects expression	7
bisphenol A	increases methylation, decreases expression, increases expression, affects cotreatment	3
sodium arsenite	decreases expression, increases abundance, increases expression	3
Tetrachlorodibenzodioxin	increases expression	2
Cyclosporine	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
GSK-J4	decreases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	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, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Ifosfamide	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_B1RP	Abcam HeLa EXOC7 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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