SNAP91

Summary

SNAP91 (synaptosome associated protein 91, HGNC:14986) is a protein-coding gene on chromosome 6q14.2, encoding Clathrin coat assembly protein AP180 (O60641). Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles.

Predicted to enable several functions, including clathrin adaptor activity; clathrin heavy chain binding activity; and phosphatidylinositol binding activity. Acts upstream of or within regulation of clathrin-dependent endocytosis. Predicted to be located in cytosol; postsynaptic density; and presynaptic membrane. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; cytoplasmic vesicle; and parallel fiber to Purkinje cell synapse. Predicted to be extrinsic component of presynaptic endocytic zone membrane. Biomarker of Alzheimer’s disease.

Source: NCBI Gene 9892 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 129 total — 1 pathogenic
• MANE Select transcript: NM_001242792

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14986
Approved symbol	SNAP91
Name	synaptosome associated protein 91
Location	6q14.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0656, AP180, CALM
Ensembl gene	ENSG00000065609
Ensembl biotype	protein_coding
OMIM	607923
Entrez	9892

Gene structure

Transcript identifiers

Ensembl transcripts: 46 — 39 protein_coding, 5 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000195649, ENST00000369690, ENST00000369691, ENST00000369694, ENST00000439399, ENST00000518309, ENST00000518312, ENST00000519133, ENST00000519779, ENST00000519825, ENST00000520213, ENST00000520302, ENST00000521485, ENST00000521616, ENST00000521743, ENST00000521931, ENST00000522248, ENST00000523199, ENST00000523448, ENST00000523484, ENST00000523585, ENST00000523780, ENST00000862655, ENST00000862656, ENST00000862657, ENST00000862658, ENST00000862659, ENST00000926216, ENST00000926217, ENST00000926218, ENST00000948467, ENST00000948468, ENST00000948469, ENST00000948470, ENST00000948471, ENST00000948472, ENST00000948473, ENST00000948474, ENST00000948475, ENST00000948476, ENST00000948477, ENST00000948478, ENST00000948479, ENST00000948480, ENST00000948481, ENST00000948482

RefSeq mRNA: 66 — MANE Select: NM_001242792 NM_001242792, NM_001242793, NM_001242794, NM_001256717, NM_001256718, NM_001363677, NM_001376675, NM_001376676, NM_001376677, NM_001376678, NM_001376679, NM_001376680, NM_001376681, NM_001376682, NM_001376683, NM_001376684, NM_001376685, NM_001376686, NM_001376687, NM_001376688, NM_001376689, NM_001376690, NM_001376691, NM_001376692, NM_001376693, NM_001376694, NM_001376695, NM_001376696, NM_001376697, NM_001376698, NM_001376699, NM_001376700, NM_001376701, NM_001376702, NM_001376703, NM_001376704, NM_001376705, NM_001376706, NM_001376707, NM_001376708, NM_001376709, NM_001376710, NM_001376711, NM_001376712, NM_001376713, NM_001376714, NM_001376715, NM_001376716, NM_001376717, NM_001376718, NM_001376719, NM_001376720, NM_001376721, NM_001376723, NM_001376726, NM_001376728, NM_001376731, NM_001376733, NM_001376734, NM_001376735, NM_001376736, NM_001376737, NM_001376738, NM_001376739, NM_001376740, NM_014841

CCDS: CCDS47455, CCDS56437, CCDS56438, CCDS87418

Canonical transcript exons

ENST00000369694 — 30 exons

Exon	Start	End
ENSE00001450659	83552885	83554285
ENSE00002719762	83707798	83707957
ENSE00003459458	83658999	83659092
ENSE00003477071	83560104	83560208
ENSE00003506355	83592946	83593017
ENSE00003539416	83614857	83614862
ENSE00003541515	83591211	83591294
ENSE00003544747	83641096	83641202
ENSE00003545820	83623301	83623342
ENSE00003562065	83593182	83593259
ENSE00003581101	83665439	83665581
ENSE00003591308	83556143	83556245
ENSE00003592921	83616969	83617039
ENSE00003598742	83576023	83576053
ENSE00003610341	83601585	83601599
ENSE00003611336	83610650	83610677
ENSE00003613353	83582222	83582356
ENSE00003620229	83656754	83656865
ENSE00003638282	83601271	83601438
ENSE00003655390	83593478	83593741
ENSE00003655706	83594374	83594481
ENSE00003658324	83607699	83607808
ENSE00003660075	83580450	83580599
ENSE00003665688	83575010	83575121
ENSE00003667841	83605685	83605803
ENSE00003677410	83560864	83560947
ENSE00003690913	83592455	83592538
ENSE00003784521	83662347	83662422
ENSE00003790371	83661502	83661604
ENSE00003925647	83708845	83709101

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 99.35.

FANTOM5 (CAGE): breadth broad, TPM avg 8.3239 / max 404.9447, expressed in 348 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
74575	7.0469	334
74579	0.3417	93
74573	0.3131	94
74576	0.1583	64
74577	0.1441	71
74574	0.1402	70
74572	0.0960	54
74578	0.0744	48
74571	0.0092	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.35	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.22	gold quality
cerebellar vermis	UBERON:0004720	98.93	gold quality
endothelial cell	CL:0000115	98.67	gold quality
pons	UBERON:0000988	98.53	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.45	gold quality
superior frontal gyrus	UBERON:0002661	98.17	gold quality
frontal pole	UBERON:0002795	98.14	gold quality
orbitofrontal cortex	UBERON:0004167	98.14	gold quality
primary visual cortex	UBERON:0002436	97.94	gold quality
cerebellum	UBERON:0002037	97.77	gold quality
paraflocculus	UBERON:0005351	97.70	gold quality
cerebellar cortex	UBERON:0002129	97.68	gold quality
Brodmann (1909) area 10	UBERON:0013541	97.68	gold quality
cerebellar hemisphere	UBERON:0002245	97.64	gold quality
postcentral gyrus	UBERON:0002581	97.63	gold quality
occipital lobe	UBERON:0002021	97.62	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.56	gold quality
parietal lobe	UBERON:0001872	97.54	gold quality
cortical plate	UBERON:0005343	97.32	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.22	gold quality
prefrontal cortex	UBERON:0000451	97.21	gold quality
entorhinal cortex	UBERON:0002728	96.91	gold quality
frontal cortex	UBERON:0001870	96.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.90	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.82	gold quality
substantia nigra pars compacta	UBERON:0001965	96.75	gold quality
neocortex	UBERON:0001950	96.51	gold quality
superior vestibular nucleus	UBERON:0007227	96.30	gold quality
cerebral cortex	UBERON:0000956	96.23	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	9.20
E-GEOD-84465	yes	6.46
E-ANND-3	yes	5.83
E-HCAD-5	no	2.29

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1, TFAP2A

miRNA regulators (miRDB)

154 targeting SNAP91, 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-5011-5P	100.00	83.46	5820
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4789-3P	99.99	70.75	2484
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
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AT-5P	99.96	70.83	2666

Literature-anchored findings (GeneRIF, showing 8)

• AP180 had an overall expression similar to synaptophysin, the immunoreactivity for the two proteins did not always co-localize. (PMID:12493563)
• RNA interference-mediated knockdown of AP180 reduces the generation of Abeta1-40 and Abeta1-42, whereas CALM knockdown has no effect on Abeta generation. (PMID:19450545)
• AP180 is significantly decreased in the hippocampus of Alzheimer’s disease patients and in hippocampal neurons of transgenic mice. (PMID:20847448)
• unique mechanism of SNARE motif-dependent endocytic sorting and identify the ANTH domain proteins AP180 and CALM as cargo-specific adaptors for synaptobrevin endocytosis (PMID:21808019)
• AP180 and CALM are endocytic adaptors dedicated to the sorting of small soluble N-ethylmaleimide-sensitive-factor attachment protein receptors. (Review) (PMID:22639918)
• intrinsically disordered domains are highly potent drivers of membrane curvature (PMID:26204806)
• To sustain efficient neurotransmission and synaptic vesicle formation, AP180 and VAMP2 are required. (PMID:26412491)
• Study concludes that the novel clathrin interaction sites identified here in CALM and AP180 have a major role in how these proteins interface with clathrin. This work advances the case that AP180 and CALM are required to use a combination of standard clathrin N-terminal domain binding motifs and the sequence identified here for optimal binding and assembling clathrin. (PMID:27574975)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	snap91b	ENSDARG00000015931
danio_rerio	snap91a	ENSDARG00000098809
mus_musculus	Snap91	ENSMUSG00000033419
rattus_norvegicus	Snap91	ENSRNOG00000023861
drosophila_melanogaster	lap	FBGN0086372
caenorhabditis_elegans	unc-11	WBGENE00006751

Paralogs (1): PICALM (ENSG00000073921)

Protein

Protein identifiers

Clathrin coat assembly protein AP180 — O60641 (reviewed: O60641)

Alternative names: 91 kDa synaptosomal-associated protein, Clathrin coat-associated protein AP180, Phosphoprotein F1-20

All UniProt accessions (13): O60641, A0A0A0MRM7, E5RFC6, E5RFU0, E5RGP8, E5RGY9, E5RHK9, E5RIJ5, E5RJY3, E5RK51, E5RK53, E9PDG8, H0YBT2

UniProt curated annotations — full annotation on UniProt →

Function. Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Binding of AP180 to clathrin triskelia induces their assembly into 60-70 nm coats.

Subunit / interactions. Binds AP2A2. Interacts with AP2B1; clathrin competes with SNAP91.

Subcellular location. Cell membrane. Membrane. Coated pit.

Post-translational modifications. Thr-310 can be modified by the addition of N-acetylglucosamine which can be further phosphorylated. There is no evidence for direct Thr-310 phosphorylation.

Domain organisation. Possesses a three domain structure: the N-terminal 300 residues harbor a clathrin binding site, an acidic middle domain 450 residues, interrupted by an Ala-rich segment, and the C-terminal domain (166 residues).

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the PICALM/SNAP91 family.

Isoforms (4)

UniProt ID	Names	Canonical?
O60641-1	1	yes
O60641-2	2
O60641-3	3
O60641-4	4

RefSeq proteins (66): NP_001229721, NP_001229722, NP_001229723, NP_001243646, NP_001243647, NP_001350606, NP_001363604, NP_001363605, NP_001363606, NP_001363607, NP_001363608, NP_001363609, NP_001363610, NP_001363611, NP_001363612, NP_001363613, NP_001363614, NP_001363615, NP_001363616, NP_001363617, NP_001363618, NP_001363619, NP_001363620, NP_001363621, NP_001363622, NP_001363623, NP_001363624, NP_001363625, NP_001363626, NP_001363627, NP_001363628, NP_001363629, NP_001363630, NP_001363631, NP_001363632, NP_001363633, NP_001363634, NP_001363635, NP_001363636, NP_001363637, NP_001363638, NP_001363639, NP_001363640, NP_001363641, NP_001363642, NP_001363643, NP_001363644, NP_001363645, NP_001363646, NP_001363647, NP_001363648, NP_001363649, NP_001363650, NP_001363652, NP_001363655, NP_001363657, NP_001363660, NP_001363662, NP_001363663, NP_001363664, NP_001363665, NP_001363666, NP_001363667, NP_001363668, NP_001363669, NP_055656 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008942	ENTH_VHS	Homologous_superfamily
IPR011417	ANTH_dom	Domain
IPR013809	ENTH	Domain
IPR014712	ANTH_dom_sf	Homologous_superfamily
IPR045192	AP180-like	Family

Pfam: PF07651

UniProt features (30 total): modified residue 12, region of interest 5, splice variant 5, compositionally biased region 4, chain 1, domain 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60641-F1	55.46	0.25

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 (12): 296, 300, 306, 313, 317, 596, 602, 623, 629, 763, 865, 865

Glycosylation sites (1): 310

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 219 (showing top): GNF2_RTN1, GOBP_VESICLE_ORGANIZATION, GOBP_CLATHRIN_COAT_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, ATGTTAA_MIR302C, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, MODULE_66, GOBP_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, GOCC_COATED_VESICLE, GNF2_TM4SF2, ATTCTTT_MIR186, GOBP_REGULATION_OF_ENDOCYTOSIS, GOBP_MEMBRANE_ORGANIZATION, GCM_MAPK10

GO Biological Process (6): vesicle budding from membrane (GO:0006900), protein transport (GO:0015031), clathrin coat assembly (GO:0048268), clathrin-dependent endocytosis (GO:0072583), regulation of clathrin-dependent endocytosis (GO:2000369), regulation of receptor-mediated endocytosis (GO:0048259)

GO Molecular Function (8): SNARE binding (GO:0000149), 1-phosphatidylinositol binding (GO:0005545), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), protein kinase binding (GO:0019901), clathrin heavy chain binding (GO:0032050), protein binding (GO:0005515), phospholipid binding (GO:0005543), clathrin binding (GO:0030276)

GO Cellular Component (6): clathrin-coated pit (GO:0005905), synaptic vesicle (GO:0008021), clathrin-coated vesicle (GO:0030136), extrinsic component of presynaptic endocytic zone membrane (GO:0098894), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Clathrin-mediated endocytosis	1
Membrane Trafficking	1
Vesicle-mediated transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
receptor-mediated endocytosis	2
protein binding	2
membrane	2
vesicle organization	1
vesicle-mediated transport	1
membrane organization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
protein-containing complex assembly	1
regulation of receptor-mediated endocytosis	1
clathrin-dependent endocytosis	1
regulation of endocytosis	1
phospholipid binding	1
phosphatidylinositol phosphate binding	1
phosphatidylinositol bisphosphate binding	1
kinase binding	1
clathrin binding	1
binding	1
lipid binding	1
endomembrane system	1
exocytic vesicle	1
presynapse	1
coated vesicle	1
presynaptic endocytic zone membrane	1
extrinsic component of presynaptic membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2228 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNAP91	EPN3	Q9H201	979
SNAP91	EPN2	O95208	979
SNAP91	HIP1R	O75146	959
SNAP91	VAMP2	P19065	927
SNAP91	CLTCL1	P53675	856
SNAP91	CLTC	Q00610	850
SNAP91	EPS15	P42566	848
SNAP91	SYNJ1	O43426	825
SNAP91	ITSN1	Q15811	822
SNAP91	ITSN2	Q9NZM3	819
SNAP91	AMPH	P49418	804
SNAP91	EPN1	Q9Y6I3	804
SNAP91	BIN1	O00499	797
SNAP91	FCHO1	O14526	753
SNAP91	SH3GL2	Q99962	731

IntAct

34 interactions, top by confidence:

A	B	Type	Score
STAMBPL1	PIK3C2A	psi-mi:“MI:0914”(association)	0.640
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
Necap1	SNAP91	psi-mi:“MI:0407”(direct interaction)	0.440
SNAP91	PKM	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ERBB2	SNAP91	psi-mi:“MI:0915”(physical association)	0.370
ERBB3	SNAP91	psi-mi:“MI:0915”(physical association)	0.370
ERBB4	SNAP91	psi-mi:“MI:0915”(physical association)	0.370
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
NUFIP1	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.350
HAX1	GPM6B	psi-mi:“MI:0914”(association)	0.350
DGUOK	DNM1L	psi-mi:“MI:0914”(association)	0.350
CDCA8	DCLK1	psi-mi:“MI:0914”(association)	0.350
DNAAF2	DNM1L	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
GPM6A	KIF2A	psi-mi:“MI:0914”(association)	0.350
HAX1	DNM1L	psi-mi:“MI:0914”(association)	0.350
DGUOK	BIN1	psi-mi:“MI:0914”(association)	0.350
SNAP91	GMNN	psi-mi:“MI:0914”(association)	0.350
SNAP91	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
DNAJC5	SNAP91	psi-mi:“MI:2364”(proximity)	0.270
FGFR1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
MAPT	PITPNM1	psi-mi:“MI:2364”(proximity)	0.270
MAPT	DCTN6	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (66): SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-MS), SNAP91 (Affinity Capture-Western), EPS15 (Reconstituted Complex), DNAJC5 (FRET), ABI2 (Two-hybrid), MIPOL1 (Two-hybrid)

ESM2 similar proteins: A7Z035, O08719, O14964, O55012, O60641, O75061, O75553, O88339, O88797, O95208, P47160, P52594, P70429, P78813, P97318, P98078, P98082, Q05140, Q0V8S0, Q13492, Q14677, Q27974, Q2TA45, Q4KLH5, Q5EA00, Q5F413, Q5R896, Q61548, Q67YI9, Q6CHN0, Q7M6Y3, Q7TN29, Q80TZ3, Q80VP1, Q8CHU3, Q8CJH2, Q8IYB5, Q8K2K6, Q8L860, Q8WU79

Diamond homologs: O55012, O60167, O60641, Q05140, Q13492, Q61548, Q7M6Y3, Q9VI75, Q9XZI6, P38856, P53309, Q8LBH2, Q9LVD8, P94017, Q8GX47, Q8L936, Q8LF20, Q8S9J8, Q8VYT2, Q9LHS0, Q9SA65, Q9ZVN6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SNAP91	“up-regulates quantity”	VAMP2	binding
SNAP91	“up-regulates quantity”	SYT1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 33 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
PIP3 activates AKT signaling	5	14.5×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	109
Likely benign	3
Benign	8

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3777761	Single allele	Pathogenic

SpliceAI

4811 predictions. Top by Δscore:

Variant	Effect	Δscore
6:83560858:ACTC:A	donor_loss	1.0000
6:83560859:CTCA:C	donor_loss	1.0000
6:83560860:TCA:T	donor_loss	1.0000
6:83560861:CACC:C	donor_loss	1.0000
6:83560862:A:AC	donor_gain	1.0000
6:83560862:ACC:A	donor_loss	1.0000
6:83560863:C:CC	donor_gain	1.0000
6:83560944:CTTG:C	acceptor_gain	1.0000
6:83560946:TG:T	acceptor_gain	1.0000
6:83560946:TGCT:T	acceptor_loss	1.0000
6:83560947:GCT:G	acceptor_loss	1.0000
6:83560948:C:CC	acceptor_gain	1.0000
6:83560949:T:G	acceptor_loss	1.0000
6:83575132:CCA:C	acceptor_gain	1.0000
6:83575133:CA:C	acceptor_gain	1.0000
6:83575134:A:AC	acceptor_gain	1.0000
6:83575134:A:C	acceptor_gain	1.0000
6:83576021:A:AC	donor_gain	1.0000
6:83576022:C:CC	donor_gain	1.0000
6:83576054:C:CC	acceptor_gain	1.0000
6:83580448:A:AC	donor_gain	1.0000
6:83580448:ACTG:A	donor_gain	1.0000
6:83580449:C:CC	donor_gain	1.0000
6:83580449:CTG:C	donor_gain	1.0000
6:83580449:CTGC:C	donor_gain	1.0000
6:83580487:T:TA	donor_gain	1.0000
6:83582216:CCTCA:C	donor_loss	1.0000
6:83582217:CTCAC:C	donor_loss	1.0000
6:83582218:TCA:T	donor_loss	1.0000
6:83582219:CAC:C	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000016647 (6:83556574 A>C,G), RS1000021654 (6:83690625 TA>T), RS1000040085 (6:83600055 A>G), RS1000040477 (6:83632535 G>A), RS1000047987 (6:83639528 A>G), RS1000074243 (6:83690902 T>A,C), RS1000090682 (6:83600352 G>T), RS1000099004 (6:83595304 T>C), RS1000119839 (6:83552448 G>C), RS1000168569 (6:83693398 A>G), RS1000180200 (6:83627794 C>T), RS1000185015 (6:83577292 C>A,T), RS1000219969 (6:83693045 T>C), RS1000223544 (6:83647096 T>C), RS1000230566 (6:83696960 C>T)

Disease associations

OMIM: gene MIM:607923 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001715_1	Bipolar disorder with mood-incongruent psychosis	1.000000e-07
GCST002706_2	Electrodermal activity	4.000000e-06
GCST004521_292	Autism spectrum disorder or schizophrenia	5.000000e-08
GCST004946_136	Schizophrenia	2.000000e-13
GCST006803_25	Schizophrenia	1.000000e-12
GCST006976_62	Macular thickness	4.000000e-10
GCST007201_213	Schizophrenia	1.000000e-09
GCST007201_63	Schizophrenia	3.000000e-12
GCST008103_154	Bipolar disorder	6.000000e-06
GCST008595_174	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	7.000000e-09
GCST009600_69	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	8.000000e-11
GCST010002_328	Refractive error	2.000000e-26
GCST012442_38	Age-related hearing impairment	1.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006867	skin conductance level
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Valproic Acid	affects expression, increases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
uranyl acetate	affects expression	1
arsenite	increases methylation	1
butyraldehyde	increases expression	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
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Decitabine	affects expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cytarabine	increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Uranium	affects expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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