CHST10

Summary

CHST10 (carbohydrate sulfotransferase 10, HGNC:19650) is a protein-coding gene on chromosome 2q11.2, encoding Carbohydrate sulfotransferase 10 (O43529). Catalyzes the transfer of sulfate from 3’-phosphoadenylyl sulfate (PAPS) to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides.

This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.

Source: NCBI Gene 9486 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_004854

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19650
Approved symbol	CHST10
Name	carbohydrate sulfotransferase 10
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	HNK-1ST
Ensembl gene	ENSG00000115526
Ensembl biotype	protein_coding
OMIM	606376
Entrez	9486

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 37 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000264249, ENST00000409046, ENST00000409701, ENST00000418201, ENST00000420858, ENST00000421474, ENST00000435960, ENST00000448989, ENST00000466583, ENST00000484382, ENST00000485085, ENST00000487860, ENST00000866824, ENST00000866825, ENST00000866826, ENST00000866827, ENST00000866828, ENST00000866829, ENST00000866830, ENST00000866831, ENST00000866832, ENST00000866833, ENST00000933567, ENST00000933568, ENST00000933569, ENST00000933570, ENST00000933571, ENST00000933572, ENST00000933573, ENST00000933574, ENST00000933575, ENST00000972080, ENST00000972081, ENST00000972082, ENST00000972083, ENST00000972084, ENST00000972085, ENST00000972086, ENST00000972087, ENST00000972088, ENST00000972089

RefSeq mRNA: 1 — MANE Select: NM_004854 NM_004854

CCDS: CCDS2047

Canonical transcript exons

ENST00000264249 — 7 exons

Exon	Start	End
ENSE00000771896	100395509	100395614
ENSE00001072191	100391860	100393782
ENSE00001130610	100417374	100417668
ENSE00003498893	100397908	100398142
ENSE00003524658	100415041	100415111
ENSE00003789867	100402564	100402655
ENSE00003797658	100406576	100406707

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 98.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1504 / max 79.3835, expressed in 1552 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29922	3.1544	1266
29921	2.9960	1406

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	98.59	gold quality
cortical plate	UBERON:0005343	96.82	gold quality
ganglionic eminence	UBERON:0004023	96.67	gold quality
lateral nuclear group of thalamus	UBERON:0002736	90.44	gold quality
middle temporal gyrus	UBERON:0002771	90.39	gold quality
frontal pole	UBERON:0002795	90.23	gold quality
Brodmann (1909) area 10	UBERON:0013541	90.03	gold quality
right frontal lobe	UBERON:0002810	90.01	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.95	gold quality
prefrontal cortex	UBERON:0000451	88.92	gold quality
secondary oocyte	CL:0000655	88.89	gold quality
embryo	UBERON:0000922	88.71	gold quality
oocyte	CL:0000023	88.53	gold quality
putamen	UBERON:0001874	88.43	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.38	gold quality
nucleus accumbens	UBERON:0001882	88.25	gold quality
cingulate cortex	UBERON:0003027	88.18	gold quality
anterior cingulate cortex	UBERON:0009835	88.14	gold quality
neocortex	UBERON:0001950	88.11	gold quality
caudate nucleus	UBERON:0001873	88.09	gold quality
paraflocculus	UBERON:0005351	88.02	gold quality
frontal cortex	UBERON:0001870	87.80	gold quality
primary visual cortex	UBERON:0002436	87.61	gold quality
middle frontal gyrus	UBERON:0002702	87.48	gold quality
cerebral cortex	UBERON:0000956	87.02	gold quality
telencephalon	UBERON:0001893	86.98	gold quality
lateral globus pallidus	UBERON:0002476	86.12	silver quality
forebrain	UBERON:0001890	86.08	gold quality
amygdala	UBERON:0001876	86.06	gold quality
occipital lobe	UBERON:0002021	85.87	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

60 targeting CHST10, 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-4455	100.00	65.48	1587
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-133A-5P	99.28	69.13	941
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-6868-5P	99.06	65.69	1284

Literature-anchored findings (GeneRIF, showing 5)

• identification of a novel member of HNK-1 family of sulfotransferases (PMID:12080076)
• We show that CHST10 is also regulated by RARgamma in a significant subset of human melanoma cells, and three-dimensional cell culture migration assays suggest that CHST10 functions as a suppressor of invasiveness, but not proliferation, in these cells (PMID:19470764)
• HNK-1ST may be responsible for regulating the sorting of alpha- and beta-TM. (PMID:21828042)
• These results suggest that HNK-1ST is involved in 3-O-sulfation of the terminal GlcA of the linkage tetrasaccharide which acts as an inhibitory signal for the initiation of chondroitin sulfate chain biosynthesis on thrombomodulin. (PMID:22020094)
• novel role for HNK-1ST as a tumor suppressor controlling the functional glycans on alpha-DG and the importance of sulfate transfer in the glycosylation of alpha-DG. (PMID:22801424)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	chst10	ENSDARG00000031632
mus_musculus	Chst10	ENSMUSG00000026080
rattus_norvegicus	Chst10	ENSRNOG00000012815

Paralogs (6): CHST8 (ENSG00000124302), CHST12 (ENSG00000136213), CHST9 (ENSG00000154080), CHST14 (ENSG00000169105), CHST11 (ENSG00000171310), CHST13 (ENSG00000180767)

Protein

Protein identifiers

Carbohydrate sulfotransferase 10 — O43529 (reviewed: O43529)

Alternative names: HNK-1 sulfotransferase

All UniProt accessions (7): B8ZZ48, C9J5X0, C9JCK7, O43529, C9JI33, C9JUE4, C9JWY0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of sulfate from 3’-phosphoadenylyl sulfate (PAPS) to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure 3-O-sulfo-beta-D-GlcA-(1->3)-beta-D-Gal-(1->4)-D-GlcNAc-R, a sulfated glucuronyl-lactosaminyl residue carried by many neural recognition molecules, which is involved in cell interactions during ontogenetic development and in synaptic plasticity in the adult. May be indirectly involved in synapse plasticity of the hippocampus, via its role in HNK-1 biosynthesis. Sulfates terminal glucuronyl residue of the laminin globular (LG)-domain binding epitope on DAG1/alpha-dystroglycan and prevents further polymerization by LARGE1 glycosyltransferase. Likely defines the chain length of LG epitope, conferring binding specificity to extracellular matrix components. Plays a role in down-regulating the steroid hormones. Sulfates glucuronidated estrogens and androgens with an impact in hormone cycle and fertility. Has a preference for glucuronyl moiety at the 3-hydroxyl group of a sterol ring rather than the 17-hydroxyl group, showing high catalytic efficiency for 17beta-estradiol 3-O-(beta-D-glucuronate) and dehydroepiandrosterone 3-O-(beta-D-glucuronate) hormones.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. In fetal tissues, it is predominantly expressed in brain, and weakly expressed in lung, kidney and liver. In adult, it is highly expressed in brain, testis, ovary, expressed at intermediate level in heart, pancreas, skeletal muscle, spleen and thymus, and weakly expressed in other tissues. In brain, it is expressed at higher level in the frontal lobe.

Pathway. Steroid metabolism. Protein modification; carbohydrate sulfation.

Similarity. Belongs to the sulfotransferase 2 family.

RefSeq proteins (1): NP_004845* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005331	Sulfotransferase	Family
IPR018011	Carb_sulfotrans_8-10	Family

Pfam: PF03567

Catalyzed reactions (Rhea), 12 shown:

• 3-O-{beta-D-GlcA-(1->3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] + 3’-phosphoadenylyl sulfate = 3-O-{O-3-S-beta-D-GlcA-(1->3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68304)
• 17beta-estradiol 3-O-(beta-D-glucuronate) 17-sulfate + 3’-phosphoadenylyl sulfate = 17beta-estradiol 3-O-(3-sulfo-beta-D-glucuronate) 17-sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68660)
• 17beta-estradiol 17-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = 17beta-estradiol 17-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68664)
• 16alpha,17beta-estriol 3-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = 16alpha,17beta-estriol 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68668)
• 16alpha,17beta-estriol 16-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = 16alpha,17beta-estriol 16-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68672)
• estrone 3-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = estrone 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68676)
• 3alpha,20alpha-dihydroxy-5beta-pregnane 3-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = 3alpha,20alpha-dihydroxy-5beta-pregnane 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68680)
• testosterone 17-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = testosterone 17-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68684)
• 3beta-androst-5-en-17-one 3-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = 3beta-androst-5-en-17-one 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68688)
• 3alpha,17alpha-dihydroxy-5beta-androstane-11-one-17beta-carboxylate 3-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = 3alpha,17alpha-dihydroxy-5beta-androstane-11-one-17beta-carboxylate 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68692)
• 17beta-estradiol 3-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = 17beta-estradiol 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68696)
• 16alpha,17beta-estriol 17-O-(beta-D-glucuronate) + 3’-phosphoadenylyl sulfate = 16alpha,17beta-estriol 17-O-(3-sulfo-beta-D-glucuronate) + adenosine 3’,5’-bisphosphate + H(+) (RHEA:68700)

UniProt features (18 total): mutagenesis site 7, glycosylation site 3, topological domain 2, sequence variant 2, binding site 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43529-F1	86.29	0.74

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): 127–133; 189–197

Glycosylation sites (3): 99, 228, 316

Mutagenesis-validated functional residues (7):

Position	Phenotype
128	loss of function.
128	induces a reduction in enzyme activity.
189	loss of function.
190	loss of function.
190	induces a mild reduction in enzyme activity.
191	loss of function.
197	loss of function.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-975578	Reactions specific to the complex N-glycan synthesis pathway
R-HSA-9939291	Matriglycan biosynthesis on DAG1

MSigDB gene sets: 132 (showing top): GOBP_MEMORY, GCM_MAP4K4, GOBP_COGNITION, GOBP_BEHAVIOR, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MAHAJAN_RESPONSE_TO_IL1A_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_LEARNING, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_LONG_TERM_MEMORY, GOBP_ANDROGEN_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GCM_CALM1

GO Biological Process (10): protein O-linked glycosylation (GO:0006493), cell adhesion (GO:0007155), learning (GO:0007612), long-term memory (GO:0007616), androgen metabolic process (GO:0008209), estrogen metabolic process (GO:0008210), carbohydrate biosynthetic process (GO:0016051), proteoglycan biosynthetic process (GO:0030166), lipid metabolic process (GO:0006629), steroid metabolic process (GO:0008202)

GO Molecular Function (3): sulfotransferase activity (GO:0008146), HNK-1 sulfotransferase activity (GO:0016232), transferase activity (GO:0016740)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
N-glycan antennae elongation in the medial/trans-Golgi	1
DAG1 glycosylations	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	2
steroid metabolic process	2
hormone metabolic process	2
cellular process	1
learning or memory	1
memory	1
carbohydrate metabolic process	1
biosynthetic process	1
proteoglycan metabolic process	1
primary metabolic process	1
lipid metabolic process	1
transferase activity, transferring sulphur-containing groups	1
sulfotransferase activity	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

686 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHST10	B3GAT1	Q9P2W7	798
CHST10	SEMA4C	Q9C0C4	791
CHST10	CNGA3	Q16281	671
CHST10	CA6	P23280	660
CHST10	LONRF2	Q1L5Z9	612
CHST10	SULT1C3	Q6IMI6	609
CHST10	SULT1C4	O75897	599
CHST10	MERTK	Q12866	559
CHST10	SULT1B1	O43704	558
CHST10	B3GAT2	Q9NPZ5	521
CHST10	DPY19L3	Q6ZPD9	499
CHST10	PCMTD2	Q9NV79	498
CHST10	ALG11	Q2TAA5	491
CHST10	PRPSAP1	Q14558	485
CHST10	NCAM1	P13591	482

IntAct

41 interactions, top by confidence:

A	B	Type	Score
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
CHST10	B4GAT1	psi-mi:“MI:0914”(association)	0.530
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
INSL5	COCH	psi-mi:“MI:0914”(association)	0.530
CHST10	SLC25A24	psi-mi:“MI:0915”(physical association)	0.400
CHST10	HSF1	psi-mi:“MI:0915”(physical association)	0.370
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
ASIC4	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
INSL5	LAMA5	psi-mi:“MI:0914”(association)	0.350
TMEM25	FUZ	psi-mi:“MI:0914”(association)	0.350
LYZL2	MANBA	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CDH5	NBAS	psi-mi:“MI:0914”(association)	0.350
APOA2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
IL17RC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
SCGB2A1	RAP1BL	psi-mi:“MI:0914”(association)	0.350
KLRC1	METTL15	psi-mi:“MI:0914”(association)	0.350
RLN1	RTL8C	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
CEACAM8	PRRT4	psi-mi:“MI:0914”(association)	0.350
PATE1	MANBA	psi-mi:“MI:0914”(association)	0.350
C1QTNF7	AGRN	psi-mi:“MI:0914”(association)	0.350
TMEM25	NME4	psi-mi:“MI:0914”(association)	0.350

BioGRID (68): PON2 (Affinity Capture-MS), PPM1A (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), PARL (Affinity Capture-MS), HLA-DPB1 (Affinity Capture-MS), SGPP1 (Affinity Capture-MS), CHST10 (Affinity Capture-MS), CHST10 (Affinity Capture-MS), PARL (Affinity Capture-MS), CHST10 (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), PON2 (Affinity Capture-MS), PPM1A (Affinity Capture-MS), CHST10 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RPR8, O14792, O35310, O43529, O54702, O93403, P09958, P23188, P83088, Q14BT6, Q16WU7, Q24157, Q29G54, Q3U435, Q5EA41, Q5F2N2, Q5RBZ6, Q5U3T0, Q5YB40, Q5ZIE4, Q6AXM1, Q6GNS1, Q6PGK7, Q6W3E9, Q6W3F0, Q70AG8, Q75UG4, Q7Q297, Q7T3S5, Q7Z4N8, Q805E5, Q80V53, Q8BGT9, Q8BSL4, Q8C7U7, Q8IXK2, Q8IZT8, Q8NCG5, Q8NCH0, Q8NCL4

Diamond homologs: O43529, O54702, P69478, Q5RBZ6, Q5XHM7, Q5ZIE4, Q6AXM1, Q6GNS1, Q6PGK7, Q76EC5, Q7L1S5, Q7T3S3, Q805E5, Q8BQ86, Q8NET6, Q99LL3, Q9H2A9, Q9JME2, Q9NPF2, Q9NRB3, Q80V53, Q8NCH0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1570 predictions. Top by Δscore:

Variant	Effect	Δscore
2:100395507:A:AC	donor_gain	1.0000
2:100395508:C:CC	donor_gain	1.0000
2:100395508:CCG:C	donor_gain	1.0000
2:100395622:G:C	acceptor_gain	1.0000
2:100415112:C:CC	acceptor_gain	1.0000
2:100415125:T:TC	acceptor_gain	1.0000
2:100417373:CCCTA:C	donor_gain	1.0000
2:100393779:CAAT:C	acceptor_gain	0.9900
2:100393780:AATC:A	acceptor_loss	0.9900
2:100393781:ATCT:A	acceptor_loss	0.9900
2:100393783:C:CC	acceptor_gain	0.9900
2:100393783:CTA:C	acceptor_loss	0.9900
2:100393784:T:C	acceptor_loss	0.9900
2:100395503:TCTCA:T	donor_loss	0.9900
2:100395504:CTCA:C	donor_loss	0.9900
2:100395505:TCA:T	donor_loss	0.9900
2:100395506:CA:C	donor_loss	0.9900
2:100395507:A:C	donor_loss	0.9900
2:100395507:ACCG:A	donor_gain	0.9900
2:100395508:C:CG	donor_loss	0.9900
2:100395508:CCGC:C	donor_gain	0.9900
2:100395508:CCGCT:C	donor_gain	0.9900
2:100395610:TGCTC:T	acceptor_gain	0.9900
2:100395612:CTC:C	acceptor_gain	0.9900
2:100395613:TC:T	acceptor_gain	0.9900
2:100395614:CC:C	acceptor_gain	0.9900
2:100395615:C:CC	acceptor_gain	0.9900
2:100395616:T:G	acceptor_loss	0.9900
2:100395622:G:GC	acceptor_gain	0.9900
2:100397929:T:A	donor_gain	0.9900

AlphaMissense

2377 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:100393506:A:C	C270W	1.000
2:100393507:C:T	C270Y	1.000
2:100393508:A:G	C270R	1.000
2:100393710:T:A	K202N	1.000
2:100393710:T:G	K202N	1.000
2:100393711:T:A	K202I	1.000
2:100393712:T:C	K202E	1.000
2:100393749:T:A	R189S	1.000
2:100393749:T:G	R189S	1.000
2:100393750:C:A	R189I	1.000
2:100393750:C:G	R189T	1.000
2:100397930:C:A	K135N	1.000
2:100397930:C:G	K135N	1.000
2:100397935:A:G	W134R	1.000
2:100397935:A:T	W134R	1.000
2:100397942:G:C	N131K	1.000
2:100397942:G:T	N131K	1.000
2:100397951:T:A	K128N	1.000
2:100397951:T:G	K128N	1.000
2:100397963:G:C	C124W	1.000
2:100397964:C:T	C124Y	1.000
2:100397965:A:G	C124R	1.000
2:100393312:A:G	L335P	0.999
2:100393498:C:G	C273S	0.999
2:100393498:C:T	C273Y	0.999
2:100393499:A:T	C273S	0.999
2:100393507:C:A	C270F	0.999
2:100393507:C:G	C270S	0.999
2:100393508:A:T	C270S	0.999
2:100393510:A:G	L269P	0.999

dbSNP variants (sampled 300 via entrez): RS1000094707 (2:100396604 T>C), RS1000112120 (2:100416722 C>A,T), RS1000295073 (2:100416452 A>G), RS1000319208 (2:100399196 C>T), RS1000441620 (2:100417034 C>T), RS1000546103 (2:100416313 T>A), RS1000680890 (2:100414821 G>C), RS1000935733 (2:100409079 G>A,C,T), RS1000992012 (2:100415550 A>C), RS1000997777 (2:100399255 C>G,T), RS1001007722 (2:100408819 G>A,T), RS1001050979 (2:100393561 A>G), RS1001198741 (2:100399387 A>G), RS1001323813 (2:100399100 CTCTT>C), RS1001392472 (2:100410843 A>G)

Disease associations

OMIM: gene MIM:606376 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST005316_338	Intelligence (MTAG)	6.000000e-16
GCST006922_7	Regular attendance at a religious group	3.000000e-11
GCST007044_6	Extremely high intelligence	5.000000e-11
GCST007155_1	Household income	2.000000e-08
GCST008647_38	Urinary sodium excretion	1.000000e-10
GCST009524_37	Household income (MTAG)	7.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0009592	social interaction measurement
EFO:0009695	household income
EFO:0009282	sodium measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression	2
Estradiol	affects cotreatment, increases expression	2
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Leflunomide	decreases expression	1
Catechin	affects cotreatment, decreases expression	1
Dietary Carbohydrates	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SJ03	HAP1 CHST10 (-) 1	Cancer cell line	Male
CVCL_XM81	HAP1 CHST10 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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