SGF29

Summary

SGF29 (SAGA complex associated factor 29, HGNC:25156) is a protein-coding gene on chromosome 16p11.2, encoding SAGA-associated factor 29 (Q96ES7). Chromatin reader component of some histone acetyltransferase (HAT) SAGA-type complexes like the TFTC-HAT, ATAC or STAGA complexes. It is a selective cancer dependency (DepMap: 58.5% of cell lines).

CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).

Source: NCBI Gene 112869 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 35 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 58.5% of screened cell lines
• MANE Select transcript: NM_138414

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25156
Approved symbol	SGF29
Name	SAGA complex associated factor 29
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32446, TDRD29
Ensembl gene	ENSG00000176476
Ensembl biotype	protein_coding
OMIM	613374
Entrez	112869

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000317058, ENST00000564023, ENST00000564682, ENST00000565945, ENST00000567447, ENST00000567564, ENST00000569581, ENST00000898115, ENST00000898116, ENST00000898117, ENST00000898118, ENST00000898119, ENST00000898120, ENST00000898121, ENST00000930812

RefSeq mRNA: 1 — MANE Select: NM_138414 NM_138414

CCDS: CCDS10635

Canonical transcript exons

ENST00000317058 — 10 exons

Exon	Start	End
ENSE00001256464	28590296	28590442
ENSE00002613052	28553920	28554097
ENSE00003484310	28584913	28584988
ENSE00003490727	28590631	28590666
ENSE00003564553	28590096	28590225
ENSE00003574577	28581055	28581144
ENSE00003583749	28591590	28591790
ENSE00003646699	28590773	28590935
ENSE00003650614	28589100	28589164
ENSE00003672783	28585648	28585720

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 94.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.4914 / max 171.4036, expressed in 1808 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153382	13.3277	1786
153384	6.4192	1637
153383	0.7186	435
153385	0.0259	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	94.73	gold quality
right testis	UBERON:0004534	94.53	gold quality
left testis	UBERON:0004533	94.47	gold quality
testis	UBERON:0000473	92.98	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.91	gold quality
left ovary	UBERON:0002119	92.81	gold quality
body of uterus	UBERON:0009853	92.71	gold quality
gastrocnemius	UBERON:0001388	92.63	gold quality
left uterine tube	UBERON:0001303	92.44	gold quality
muscle of leg	UBERON:0001383	92.28	gold quality
right ovary	UBERON:0002118	92.23	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.15	gold quality
granulocyte	CL:0000094	91.95	gold quality
endocervix	UBERON:0000458	91.49	gold quality
muscle organ	UBERON:0001630	91.38	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.13	gold quality
mucosa of stomach	UBERON:0001199	91.12	gold quality
body of pancreas	UBERON:0001150	91.09	gold quality
triceps brachii	UBERON:0001509	90.87	gold quality
right lobe of thyroid gland	UBERON:0001119	90.67	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.62	gold quality
ovary	UBERON:0000992	90.61	gold quality
right lobe of liver	UBERON:0001114	90.61	gold quality
lower esophagus	UBERON:0013473	90.60	gold quality
left lobe of thyroid gland	UBERON:0001120	90.49	gold quality
popliteal artery	UBERON:0002250	90.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.42	gold quality
tibial artery	UBERON:0007610	90.41	gold quality
apex of heart	UBERON:0002098	90.35	gold quality
gluteal muscle	UBERON:0002000	90.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.72
E-GEOD-124858	no	24.95

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SRY

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 58.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Results suggest that the H3K4me3-binding protein SGF29 plays a central and dual role in the ER stress response. (PMID:23894581)
• Loss of function SGF29 mutation is associated with Cryptococcus neoformans hypervirulence. (PMID:29263343)
• Transcriptional control of leukemogenesis by the chromatin reader SGF29. (PMID:38048593)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	sgf29	ENSDARG00000002339
mus_musculus	Sgf29	ENSMUSG00000030714
rattus_norvegicus	Sgf29	ENSRNOG00000019245
drosophila_melanogaster	Sgf29	FBGN0050390
caenorhabditis_elegans		WBGENE00020673
caenorhabditis_elegans		WBGENE00021205

Protein

Protein identifiers

SAGA-associated factor 29 — Q96ES7 (reviewed: Q96ES7)

Alternative names: Coiled-coil domain-containing protein 101, SAGA complex-associated factor 29

All UniProt accessions (3): Q96ES7, H3BN84, H3BPL5

UniProt curated annotations — full annotation on UniProt →

Function. Chromatin reader component of some histone acetyltransferase (HAT) SAGA-type complexes like the TFTC-HAT, ATAC or STAGA complexes. SGF29 specifically recognizes and binds methylated ‘Lys-4’ of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3). In the SAGA-type complexes, SGF29 is required to recruit complexes to H3K4me. Involved in the response to endoplasmic reticulum (ER) stress by recruiting the SAGA complex to H3K4me, thereby promoting histone H3 acetylation and cell survival. Also binds non-histone proteins that are methylated on Lys residues: specifically recognizes and binds CGAS monomethylated on ‘Lys-506’.

Subunit / interactions. Interacts with dimethylated and trimethylated ‘Lys-4’ of histone H3 (H3K4me2 and H3K4me3), with a preference for the trimethylated form (H3K4me3). Component of some SAGA-type complexes. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. Interacts with (methylated) CGAS. Interacts with TADA3L, GCN5L2, SUPT3H and MYC.

Subcellular location. Nucleus.

Domain organisation. The SGF29 C-terminal (also named tudor-like) domain mediates binding to methylated ‘Lys-4’ of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3).

Similarity. Belongs to the SGF29 family.

RefSeq proteins (1): NP_612423* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010750	SGF29_tudor-like_dom	Domain
IPR037802	SGF29	Family
IPR047287	Tudor_SGF29_rpt2	Domain
IPR047288	Tudor_SGF29_rpt1	Domain

Pfam: PF07039

UniProt features (45 total): mutagenesis site 18, strand 11, helix 4, region of interest 3, turn 2, site 2, chain 1, domain 1, sequence conflict 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
3MEA	X-RAY DIFFRACTION	1.26
3MEU	X-RAY DIFFRACTION	1.28
3ME9	X-RAY DIFFRACTION	1.37
5C0M	X-RAY DIFFRACTION	1.6
3LX7	X-RAY DIFFRACTION	1.78
3MEV	X-RAY DIFFRACTION	1.83
3MEW	X-RAY DIFFRACTION	1.92
3MET	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96ES7-F1	91.79	0.83

Functional residue map

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

Catalytic / active sites (2): 238 (histone h3k4me3 binding); 245 (histone h3k4me3 binding)

Post-translational modifications (1): 288

Mutagenesis-validated functional residues (18):

Position	Phenotype
179	does not strongly affect binding to h3k4me.
194	abolishes h3k4me3 binding.
196	abolishes h3k4me3 binding.
214	does not strongly affect binding to h3k4me.
232	does not strongly affect binding to h3k4me.
238	strongly reduced h3k4me3 binding.
238	does not affect binding to h3k4me3.
240	slightly reduced h3k4me3 binding.
242	almost abolished h3k4me3 binding.
245	abolishes h3k4me3 binding.
245	reduced h3k4me3 binding.
256	does not strongly affect binding to h3k4me.
264	strongly reduced binding to h3k4me3.
266	strongly reduced binding to h3k4me3.
266	does not affect binding to h3k4me3.
266	slightly reduced binding to h3k4me3.
282	does not strongly affect binding to h3k4me.
175	does not strongly affect binding to h3k4me.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-9772755	Formation of WDR5-containing histone-modifying complexes
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization
R-HSA-74160	Gene expression (Transcription)
R-HSA-9917777	Epigenetic regulation by WDR5-containing histone modifying complexes

MSigDB gene sets: 153 (showing top): GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_REGULATION_OF_PROTEIN_DEACETYLATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_DEACYLATION, AACYNNNNTTCCS_UNKNOWN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_REGULATION_OF_DNA_REPAIR, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, chr16p11, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_CELL_DIVISION, GOBP_DNA_DAMAGE_RESPONSE

GO Biological Process (17): negative regulation of transcription by RNA polymerase II (GO:0000122), DNA repair (GO:0006281), regulation of DNA repair (GO:0006282), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), response to endoplasmic reticulum stress (GO:0034976), regulation of RNA splicing (GO:0043484), negative regulation of DNA repair (GO:0045738), transcription initiation-coupled chromatin remodeling (GO:0045815), positive regulation of DNA-templated transcription (GO:0045893), regulation of embryonic development (GO:0045995), regulation of cell division (GO:0051302), regulation of cell cycle (GO:0051726), establishment of protein localization to chromatin (GO:0071169), chromatin organization (GO:0006325), regulation of nucleobase-containing compound metabolic process (GO:0019219), regulation of macromolecule metabolic process (GO:0060255)

GO Molecular Function (4): histone H3K4me3 reader activity (GO:0140002), histone H3K36me3 reader activity (GO:0140003), methylation-dependent protein binding (GO:0140034), protein binding (GO:0005515)

GO Cellular Component (6): SAGA complex (GO:0000124), nucleoplasm (GO:0005654), SAGA-type complex (GO:0070461), mitotic spindle (GO:0072686), ATAC complex (GO:0140672), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Epigenetic regulation by WDR5-containing histone modifying complexes	1
Gene expression (Transcription)	1
Chromatin organization	1
Epigenetic regulation of gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
DNA repair	2
DNA-templated transcription	2
regulation of gene expression	2
regulation of DNA-templated transcription	2
regulation of primary metabolic process	2
regulation of cellular process	2
histone H3 reader activity	2
SAGA-type complex	2
regulation of transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
DNA metabolic process	1
DNA damage response	1
regulation of DNA metabolic process	1
regulation of cellular response to stress	1
regulation of RNA biosynthetic process	1
cellular response to stress	1
RNA splicing	1
regulation of DNA repair	1
negative regulation of response to stimulus	1
negative regulation of DNA metabolic process	1
transcription initiation at RNA polymerase II promoter	1
positive regulation of gene expression, epigenetic	1
positive regulation of RNA biosynthetic process	1
embryo development	1
regulation of multicellular organismal development	1
cell division	1
cell cycle	1
establishment of protein localization to chromosome	1
cellular component organization	1
nucleobase-containing compound metabolic process	1
regulation of metabolic process	1
macromolecule metabolic process	1
modification-dependent protein binding	1
binding	1
DUBm complex	1
peptidase complex	1
nuclear lumen	1
cellular anatomical structure	1
histone acetyltransferase complex	1

Protein interactions and networks

STRING

1494 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SGF29	KAT2A	Q92830	998
SGF29	TADA3	O75528	998
SGF29	KAT2B	Q92831	997
SGF29	TADA2B	Q86TJ2	982
SGF29	TADA2A	O75478	982
SGF29	TAF9	Q16594	895
SGF29	ATXN7	O15265	894
SGF29	YEATS2	Q9ULM3	855
SGF29	ENY2	Q9NPA8	829
SGF29	TAF5	Q15542	825
SGF29	TAF6	P49848	819
SGF29	SF3B5	Q9BWJ5	806
SGF29	SUPT3H	O75486	804
SGF29	TAF12	Q16514	792
SGF29	TRRAP	Q9Y4A5	782

IntAct

254 interactions, top by confidence:

A	B	Type	Score
TADA3	SGF29	psi-mi:“MI:0915”(physical association)	0.940
SGF29	TADA3	psi-mi:“MI:0915”(physical association)	0.940
SPC24	NDC80	psi-mi:“MI:0914”(association)	0.920
SGF29	NDC80	psi-mi:“MI:0915”(physical association)	0.840
TCF4	SGF29	psi-mi:“MI:0915”(physical association)	0.840
SGF29	TCF4	psi-mi:“MI:0915”(physical association)	0.840
NDC80	SGF29	psi-mi:“MI:0915”(physical association)	0.840
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
KRT15	SGF29	psi-mi:“MI:0915”(physical association)	0.780
RINT1	SGF29	psi-mi:“MI:0915”(physical association)	0.780
SGF29	KRT15	psi-mi:“MI:0915”(physical association)	0.780
SGF29	RINT1	psi-mi:“MI:0915”(physical association)	0.780
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
BECN1	SGF29	psi-mi:“MI:0915”(physical association)	0.740
TRRAP	ATXN7	psi-mi:“MI:0914”(association)	0.740
KRT16	SGF29	psi-mi:“MI:0915”(physical association)	0.670
KRT27	SGF29	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (406): CCDC101 (Two-hybrid), CCDC101 (Two-hybrid), CCDC101 (Two-hybrid), CCDC101 (Two-hybrid), CCDC101 (Two-hybrid), CCDC101 (Two-hybrid), CCDC101 (Two-hybrid), CCDC101 (Two-hybrid), CCDC101 (Two-hybrid), CLHC1 (Two-hybrid), CCDC101 (Reconstituted Complex), CCDC101 (Protein-peptide), ZZZ3 (Affinity Capture-MS), DR1 (Affinity Capture-MS), YEATS2 (Affinity Capture-MS)

ESM2 similar proteins: A2AFR3, A2VDY6, O94967, P0C606, P79987, Q03353, Q03354, Q03355, Q14161, Q1L8G7, Q3UX43, Q4R8N2, Q4R8V9, Q50H33, Q58A45, Q5RDU9, Q5RED8, Q5TKA1, Q5VUG0, Q5ZL38, Q641K1, Q68CL5, Q6AXS8, Q6GR30, Q6PAJ1, Q6ZWB6, Q7SXV2, Q7ZXY4, Q8C5G2, Q8C735, Q8CB44, Q8CGF6, Q8IWR0, Q8K2D3, Q8N6S4, Q8QFX1, Q8VDD9, Q8WUU5, Q8WWQ0, Q8WXG6

Diamond homologs: P0C606, Q5ZL38, Q8RXY6, Q96ES7, Q9DA08, Q9W2I4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SGF29	“form complex”	“SAGA complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 139 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
Formation of WDR5-containing histone-modifying complexes	5	13.7×	2e-03
HATs acetylate histones	14	11.4×	9e-09
Deubiquitination	8	10.2×	3e-04
Epigenetic regulation by WDR5-containing histone modifying complexes	6	9.6×	2e-03
CHD1 and CHD2 subfamily	7	7.8×	2e-03
UCH proteinases	6	7.7×	6e-03
Chromatin organization	9	7.6×	4e-04
Formation of the beta-catenin:TCF transactivating complex	6	7.4×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of DNA repair	14	30.4×	1e-14
regulation of RNA splicing	12	20.7×	2e-10
morphogenesis of an epithelium	7	19.0×	1e-05
intermediate filament organization	8	15.2×	1e-05
RNA polymerase II preinitiation complex assembly	7	15.0×	6e-05
regulation of embryonic development	5	13.0×	4e-03
positive regulation of transcription initiation by RNA polymerase II	6	12.8×	9e-04
epithelial cell differentiation	6	8.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1619 predictions. Top by Δscore:

Variant	Effect	Δscore
16:28554151:GGC:G	donor_gain	1.0000
16:28581041:C:CA	acceptor_gain	1.0000
16:28581050:ACCAG:A	acceptor_gain	1.0000
16:28581054:G:GT	acceptor_loss	1.0000
16:28584984:CAAGA:C	donor_gain	1.0000
16:28584985:AAGA:A	donor_gain	1.0000
16:28584986:AGA:A	donor_gain	1.0000
16:28584986:AGAGT:A	donor_loss	1.0000
16:28584987:GA:G	donor_gain	1.0000
16:28584987:GAG:G	donor_gain	1.0000
16:28584988:AGT:A	donor_loss	1.0000
16:28584989:G:GG	donor_gain	1.0000
16:28584990:TGA:T	donor_loss	1.0000
16:28584991:GAG:G	donor_loss	1.0000
16:28585645:CA:C	acceptor_loss	1.0000
16:28585646:A:AG	acceptor_gain	1.0000
16:28585646:A:C	acceptor_loss	1.0000
16:28585647:G:GC	acceptor_gain	1.0000
16:28585647:GT:G	acceptor_gain	1.0000
16:28585647:GTTT:G	acceptor_gain	1.0000
16:28585716:TGCAA:T	donor_gain	1.0000
16:28585717:GCAA:G	donor_gain	1.0000
16:28585717:GCAAG:G	donor_gain	1.0000
16:28585721:G:GG	donor_gain	1.0000
16:28585722:T:G	donor_loss	1.0000
16:28589091:C:A	acceptor_gain	1.0000
16:28589096:TCA:T	acceptor_loss	1.0000
16:28589097:CA:C	acceptor_loss	1.0000
16:28589098:A:AG	acceptor_gain	1.0000
16:28589098:A:G	acceptor_loss	1.0000

AlphaMissense

1890 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:28581119:T:C	L17P	1.000
16:28584920:G:C	R28P	1.000
16:28585668:A:G	K58E	1.000
16:28585670:G:C	K58N	1.000
16:28585670:G:T	K58N	1.000
16:28585672:T:C	L59P	1.000
16:28585681:T:C	L62P	1.000
16:28585692:G:C	A66P	1.000
16:28585693:C:A	A66D	1.000
16:28585704:G:C	A70P	1.000
16:28590149:C:A	R115S	1.000
16:28590149:C:T	R115C	1.000
16:28590153:G:C	R116T	1.000
16:28590153:G:T	R116I	1.000
16:28590154:A:C	R116S	1.000
16:28590154:A:T	R116S	1.000
16:28590155:G:A	G117R	1.000
16:28590155:G:C	G117R	1.000
16:28590155:G:T	G117W	1.000
16:28590156:G:A	G117E	1.000
16:28590156:G:T	G117V	1.000
16:28590162:T:C	L119P	1.000
16:28590165:T:A	M120K	1.000
16:28590165:T:C	M120T	1.000
16:28590165:T:G	M120R	1.000
16:28590166:G:A	M120I	1.000
16:28590166:G:C	M120I	1.000
16:28590166:G:T	M120I	1.000
16:28590171:T:C	L122P	1.000
16:28590174:T:A	L123Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000042689 (16:28558302 G>A), RS1000045131 (16:28554446 C>T), RS1000149731 (16:28561128 A>C), RS1000152063 (16:28588439 C>T), RS1000235224 (16:28571728 A>C,T), RS1000281675 (16:28577670 T>G), RS1000395246 (16:28584702 A>T), RS1000414573 (16:28553420 G>T), RS1000570113 (16:28589433 G>A), RS1000667300 (16:28558565 T>G), RS1000716704 (16:28576508 C>G,T), RS1000866832 (16:28570200 C>G), RS1000867028 (16:28584504 A>G,T), RS1001030780 (16:28553381 A>G), RS1001044318 (16:28563327 C>G,T)

Disease associations

OMIM: gene MIM:613374 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST000531_2	Inflammatory bowel disease (early onset)	2.000000e-09
GCST002598_62	Educational attainment	1.000000e-06
GCST004131_83	Inflammatory bowel disease	2.000000e-12
GCST004132_69	Crohn’s disease	3.000000e-10
GCST004147_4	Chronic obstructive pulmonary disease	7.000000e-10
GCST005316_517	Intelligence (MTAG)	8.000000e-15
GCST006269_1207	General cognitive ability	4.000000e-08
GCST006269_605	General cognitive ability	3.000000e-13
GCST007044_23	Extremely high intelligence	2.000000e-08
GCST007293_116	Body fat distribution (arm fat ratio)	2.000000e-08
GCST007293_16	Body fat distribution (arm fat ratio)	4.000000e-09
GCST007293_43	Body fat distribution (arm fat ratio)	2.000000e-12
GCST007294_71	Body fat distribution (trunk fat ratio)	2.000000e-12
GCST007294_97	Body fat distribution (trunk fat ratio)	1.000000e-11
GCST007295_20	Body fat distribution (leg fat ratio)	3.000000e-06
GCST007295_44	Body fat distribution (leg fat ratio)	1.000000e-21
GCST007295_79	Body fat distribution (leg fat ratio)	2.000000e-24
GCST009733_134	Urinary metabolite levels in chronic kidney disease	3.000000e-31
GCST010002_111	Refractive error	3.000000e-09
GCST010133_15	Lamb consumption	3.000000e-08
GCST010703_152	Brain morphology (MOSTest)	3.000000e-09
GCST012020_152	Serum metabolite levels	1.000000e-45
GCST012021_77	Serum metabolite levels	1.000000e-45
GCST012227_381	Hip circumference adjusted for BMI	1.000000e-08
GCST90002402_456	Platelet count	3.000000e-12

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004784	self reported educational attainment
EFO:0004337	intelligence
EFO:0004341	body fat distribution
EFO:0005116	urinary metabolite measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523425 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
alpha phellandrene	decreases expression	1
bisphenol A	decreases methylation	1
trichostatin A	affects expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
K 7174	increases expression	1
Temozolomide	increases expression	1
Coumestrol	increases expression	1
Methapyrilene	decreases methylation	1
Methyl Methanesulfonate	increases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tunicamycin	increases expression	1
Valproic Acid	affects expression	1
Cyclosporine	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Acrylamide	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4377348	Binding	Binding affinity to SGF29 (unknown origin) assessed as induction of thermal shifts at 20 uM measured for 25 mins by SYPRO orange dye thermal shift assay	Discovery of a Potent and Selective Fragment-like Inhibitor of Methyllysine Reader Protein Spindlin 1 (SPIN1). — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SH18	HAP1 CCDC101 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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