BCL7A

Summary

BCL7A (BAF chromatin remodeling complex subunit BCL7A, HGNC:1004) is a protein-coding gene on chromosome 12q24.31, encoding B-cell CLL/lymphoma 7 protein family member A (Q4VC05).

This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 605 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 39 total — 1 likely-pathogenic
• Druggable target: yes
• Cancer driver (intOGen): activating (oncogene-like) across 4 cancer types
• MANE Select transcript: NM_001024808

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1004
Approved symbol	BCL7A
Name	BAF chromatin remodeling complex subunit BCL7A
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	SMARCJ1
Ensembl gene	ENSG00000110987
Ensembl biotype	protein_coding
OMIM	601406
Entrez	605

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000261822, ENST00000432926, ENST00000538010, ENST00000918380, ENST00000918381

RefSeq mRNA: 2 — MANE Select: NM_001024808 NM_001024808, NM_020993

CCDS: CCDS53841, CCDS9226

Canonical transcript exons

ENST00000261822 — 6 exons

Exon	Start	End
ENSE00001122461	122043886	122044053
ENSE00001620622	122021884	122022183
ENSE00002247403	122054805	122054926
ENSE00003503723	122035331	122035427
ENSE00003621613	122030700	122030781
ENSE00003903804	122059092	122062044

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 97.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.2772 / max 191.9413, expressed in 1685 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128499	9.4554	1617
128498	2.3901	1028
128500	1.1569	538
128497	0.2398	113
128495	0.0172	7
128496	0.0125	6
128494	0.0053	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.22	gold quality
ganglionic eminence	UBERON:0004023	93.46	gold quality
embryo	UBERON:0000922	93.45	gold quality
ventricular zone	UBERON:0003053	89.88	gold quality
prefrontal cortex	UBERON:0000451	86.49	gold quality
frontal cortex	UBERON:0001870	85.60	gold quality
superior frontal gyrus	UBERON:0002661	85.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	85.35	gold quality
cerebellum	UBERON:0002037	85.07	gold quality
cerebellar cortex	UBERON:0002129	84.99	gold quality
cerebellar hemisphere	UBERON:0002245	84.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.91	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.84	gold quality
primary visual cortex	UBERON:0002436	84.59	gold quality
cerebral cortex	UBERON:0000956	84.28	gold quality
right frontal lobe	UBERON:0002810	84.17	gold quality
anterior cingulate cortex	UBERON:0009835	82.77	gold quality
skeletal muscle tissue	UBERON:0001134	82.60	gold quality
gastrocnemius	UBERON:0001388	82.26	gold quality
brain	UBERON:0000955	82.05	gold quality
nucleus accumbens	UBERON:0001882	81.99	gold quality
muscle of leg	UBERON:0001383	81.66	gold quality
kidney	UBERON:0002113	81.39	gold quality
adult mammalian kidney	UBERON:0000082	81.36	gold quality
cortex of kidney	UBERON:0001225	81.08	gold quality
putamen	UBERON:0001874	81.03	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.00	gold quality
caudate nucleus	UBERON:0001873	80.95	gold quality
muscle tissue	UBERON:0002385	80.89	gold quality
lymph node	UBERON:0000029	80.45	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	57.22
E-ANND-3	yes	6.12
E-MTAB-7381	no	90.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

209 targeting BCL7A, 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-1252-5P	100.00	69.80	2774
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-9985	99.98	72.11	2939
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-493-5P	99.96	72.47	2382

Literature-anchored findings (GeneRIF, showing 10)

• Promoter hypermethylation of BCL7a is associated with cutaneous T-cell lymphoma (PMID:15897551)
• deletion of genes BCL7A in early-stage mycosis fungoides. (PMID:18663754)
• Variants in BCL7A were strongly related to diffuse large B-cell lymphoma. (PMID:19336552)
• Data suggest that BCL7A may play an important role in cutaneous T-cell lymphoma (CTCL) carcinogenesis. (PMID:22856870)
• Report describes BCL7A protein expression in normal lymphoid tissues and lymphomas using immunohistochemistry. (PMID:23043359)
• BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations. (PMID:29166413)
• Survival analysis showed that, compared with those who had higher levels of BCL7A expression, patients with ovarian cancer and low levels of BCL7A generally had shorter overall/relapse-free survival times. (PMID:31077237)
• Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL. (PMID:32576963)
• MiR-501-3p promotes osteosarcoma cell proliferation, migration and invasion by targeting BCL7A. (PMID:33415690)
• BCL7A as a novel prognostic biomarker for glioma patients. (PMID:34362400)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	bcl7a	ENSDARG00000052907
mus_musculus	Bcl7a	ENSMUSG00000029438
rattus_norvegicus	Bcl7a	ENSRNOG00000056017
drosophila_melanogaster	BCL7-like	FBGN0026149
caenorhabditis_elegans		WBGENE00016192

Paralogs (2): BCL7C (ENSG00000099385), BCL7B (ENSG00000106635)

Protein

Protein identifiers

B-cell CLL/lymphoma 7 protein family member A — Q4VC05 (reviewed: Q4VC05)

All UniProt accessions (1): Q4VC05

UniProt curated annotations — full annotation on UniProt →

Disease relevance. Chromosomal aberrations involving BCL7A may be a cause of B-cell non-Hodgkin lymphoma. Three-way translocation t(8;14;12)(q24.1;q32.3;q24.1) with MYC and with immunoglobulin gene regions.

Similarity. Belongs to the BCL7 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q4VC05-1	1, Isoform b	yes
Q4VC05-2	2

RefSeq proteins (2): NP_001019979, NP_066273 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006804	BCL7	Family

Pfam: PF04714

UniProt features (12 total): compositionally biased region 5, modified residue 2, chain 1, region of interest 1, splice variant 1, sequence variant 1, cross-link 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
9WC0	ELECTRON MICROSCOPY	2.4
9WBZ	ELECTRON MICROSCOPY	2.9
9QAJ	ELECTRON MICROSCOPY	2.95
9WC1	ELECTRON MICROSCOPY	3.4
21WC	ELECTRON MICROSCOPY	3.9
21VV	ELECTRON MICROSCOPY	4.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4VC05-F1	63.62	0.19

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 (3): 203, 207, 199

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-9824585	Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-9845323	Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
R-HSA-9933937	Formation of the canonical BAF (cBAF) complex
R-HSA-9933939	Formation of the polybromo-BAF (pBAF) complex
R-HSA-9933946	Formation of the embryonic stem cell BAF (esBAF) complex
R-HSA-9933947	Formation of the non-canonical BAF (ncBAF) complex
R-HSA-9934037	Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
R-HSA-1266738	Developmental Biology
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-74160	Gene expression (Transcription)
R-HSA-9730414	MITF-M-regulated melanocyte development
R-HSA-9842860	Regulation of endogenous retroelements
R-HSA-9856651	MITF-M-dependent gene expression

MSigDB gene sets: 329 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_CHROMOSOME_ORGANIZATION, GOBP_COGNITION, GGTGTGT_MIR329, GOBP_BEHAVIOR, TGCGCANK_UNKNOWN, MODULE_169, GOBP_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY, GCANCTGNY_MYOD_Q6, SP3_Q3, ATACCTC_MIR202, AREB6_03, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_NEUROGENESIS

GO Biological Process (13): chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of cell population proliferation (GO:0008284), regulation of mitotic metaphase/anaphase transition (GO:0030071), negative regulation of cell differentiation (GO:0045596), negative regulation of DNA-templated transcription (GO:0045892), motor behavior (GO:0061744), regulation of G0 to G1 transition (GO:0070316), neuron projection arborization (GO:0140058), positive regulation of stem cell population maintenance (GO:1902459), regulation of G1/S transition of mitotic cell cycle (GO:2000045), positive regulation of double-strand break repair (GO:2000781), regulation of nucleotide-excision repair (GO:2000819)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleoplasm (GO:0005654), SWI/SNF complex (GO:0016514), GBAF complex (GO:0140288)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
SWI/SNF chromatin remodelers	5
MITF-M-dependent gene expression	1
Regulation of endogenous retroelements	1
Gene expression (Transcription)	1
Developmental Biology	1
Epigenetic regulation of gene expression	1
MITF-M-regulated melanocyte development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
regulation of mitotic cell cycle phase transition	2
cellular anatomical structure	2
SWI/SNF superfamily-type complex	2
chromatin organization	1
transcription by RNA polymerase II	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
metaphase/anaphase transition of mitotic cell cycle	1
regulation of metaphase/anaphase transition of cell cycle	1
cell differentiation	1
regulation of cell differentiation	1
negative regulation of cellular process	1
negative regulation of developmental process	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
behavior	1
regulation of cell cycle process	1
G0 to G1 transition	1
neuron projection morphogenesis	1
stem cell population maintenance	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
regulation of stem cell population maintenance	1
G1/S transition of mitotic cell cycle	1
regulation of cell cycle G1/S phase transition	1
double-strand break repair	1
positive regulation of DNA repair	1
regulation of double-strand break repair	1
regulation of DNA repair	1
nucleotide-excision repair	1
binding	1
chromosome	1
nuclear lumen	1

Protein interactions and networks

STRING

708 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BCL7A	ACTL6A	O96019	838
BCL7A	DPF2	Q92785	816
BCL7A	SMARCA4	P51532	806
BCL7A	SMARCB1	Q12824	754
BCL7A	ARID1A	O14497	750
BCL7A	DPF1	Q92782	728
BCL7A	SMARCD1	Q96GM5	711
BCL7A	PHF10	Q8WUB8	705
BCL7A	BRD9	Q9H8M2	701
BCL7A	PBRM1	Q86U86	693
BCL7A	CALD1	Q05682	689
BCL7A	SMARCC1	Q92922	675
BCL7A	SS18L1	O75177	662
BCL7A	BICRA	Q9NZM4	652
BCL7A	SMARCE1	Q969G3	639

IntAct

87 interactions, top by confidence:

A	B	Type	Score
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
SMARCE1	ARID1A	psi-mi:“MI:0914”(association)	0.840
SMARCD1	ARID1A	psi-mi:“MI:0914”(association)	0.790
SMARCC2	ARID1A	psi-mi:“MI:0914”(association)	0.790
DPF2	ARID1A	psi-mi:“MI:0914”(association)	0.730
SMARCD2	ARID1A	psi-mi:“MI:0914”(association)	0.670
BCL7C	ARID1A	psi-mi:“MI:0914”(association)	0.640
BCL7A	ARID1A	psi-mi:“MI:0914”(association)	0.640
SS18L2	GON4L	psi-mi:“MI:0914”(association)	0.610
BCL7A	ALAS1	psi-mi:“MI:0915”(physical association)	0.560
DPF3	ARID1A	psi-mi:“MI:0914”(association)	0.530
CD151	BCL7A	psi-mi:“MI:0915”(physical association)	0.490
BCL7A	CD151	psi-mi:“MI:0915”(physical association)	0.490
FOS	MYO1C	psi-mi:“MI:2364”(proximity)	0.480
SS18L2	ARID1A	psi-mi:“MI:0914”(association)	0.480
BCL7A	RPS12	psi-mi:“MI:0915”(physical association)	0.400
BCL7A	CALD1	psi-mi:“MI:0915”(physical association)	0.400
Bcl7b		psi-mi:“MI:0915”(physical association)	0.400
Tuba3a	CCHCR1	psi-mi:“MI:0914”(association)	0.350

BioGRID (222): BCL7A (Two-hybrid), BCL7A (Affinity Capture-MS), BCL7A (Affinity Capture-MS), BCL7A (Affinity Capture-MS), BCL7A (Affinity Capture-MS), ARID1A (Co-fractionation), BCL7A (Co-fractionation), BCL7A (Co-fractionation), BCL7A (Co-fractionation), BCL7A (Co-fractionation), BCL7A (Co-fractionation), BCL7A (Co-fractionation), SMARCA4 (Co-fractionation), SMARCC1 (Co-fractionation), SMARCC2 (Co-fractionation)

ESM2 similar proteins: A0A1B0GUA9, A0A1B0GV96, A4IFJ0, B3DGJ2, O43687, O55074, O70139, O75167, P04370, P0C8S0, P0C913, P0C914, P0CD96, P19103, P27775, P49342, P61925, P61926, P62025, P63248, P63249, Q04758, Q13522, Q29026, Q3SX13, Q3T0A6, Q3ZB98, Q4VC05, Q5FVI4, Q5R6X9, Q64256, Q6P3A1, Q71U53, Q7M2N1, Q7YQJ3, Q7YQJ4, Q8N111, Q8R409, Q8TAD7, Q8WMS3

Diamond homologs: A2BIL8, O08664, Q09242, Q3T0A6, Q4VC05, Q5XFY4, Q5XH61, Q6DEV7, Q6NWJ0, Q8WUZ0, Q921K9, Q9BQE9, Q9CXE2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
BCL7A	“form complex”	GBAF	binding
BCL7A	“form complex”	“Embryonic stem cell-specific SWI/SNF”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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 the canonical BAF (cBAF) complex	9	84.0×	4e-14
Formation of the embryonic stem cell BAF (esBAF) complex	9	79.5×	5e-14
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	11	73.9×	1e-16
Formation of the polybromo-BAF (pBAF) complex	7	65.3×	3e-10
Formation of the non-canonical BAF (ncBAF) complex	6	59.3×	2e-08
Regulation of MITF-M-dependent genes involved in pigmentation	13	50.8×	5e-17
Regulation of endogenous retroelements	9	48.8×	7e-12
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	7	30.9×	8e-08

GO biological processes:

GO term	Partners	Fold	FDR
regulation of G0 to G1 transition	10	80.2×	4e-15
regulation of nucleotide-excision repair	10	71.7×	1e-14
nucleosome disassembly	7	66.9×	5e-10
regulation of mitotic metaphase/anaphase transition	10	59.0×	1e-13
positive regulation of T cell differentiation	8	43.4×	6e-10
positive regulation of double-strand break repair	10	40.9×	4e-12
positive regulation of myoblast differentiation	9	39.2×	1e-10
regulation of G1/S transition of mitotic cell cycle	10	36.5×	1e-11

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 4 cancer types — BL, DLBCLNOS, MLYM, PCM.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	21
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2578698	GRCh37/hg19 12q24.31(chr12:121890923-122473333)x1	Likely pathogenic

SpliceAI

1298 predictions. Top by Δscore:

Variant	Effect	Δscore
12:122030778:TGAC:T	donor_gain	1.0000
12:122030778:TGACG:T	donor_loss	1.0000
12:122030779:GAC:G	donor_gain	1.0000
12:122030779:GACG:G	donor_gain	1.0000
12:122030780:ACG:A	donor_loss	1.0000
12:122030781:CG:C	donor_loss	1.0000
12:122030782:G:GG	donor_gain	1.0000
12:122030783:TGAG:T	donor_loss	1.0000
12:122030784:GAGTA:G	donor_loss	1.0000
12:122035328:CA:C	acceptor_loss	1.0000
12:122035329:A:AG	acceptor_gain	1.0000
12:122035329:AGA:A	acceptor_loss	1.0000
12:122035330:G:GT	acceptor_gain	1.0000
12:122035330:GA:G	acceptor_gain	1.0000
12:122035330:GAA:G	acceptor_gain	1.0000
12:122035330:GAAA:G	acceptor_gain	1.0000
12:122035330:GAAAA:G	acceptor_gain	1.0000
12:122035423:GCATG:G	donor_gain	1.0000
12:122035425:ATGGT:A	donor_loss	1.0000
12:122035426:TGGTG:T	donor_loss	1.0000
12:122035427:GGT:G	donor_loss	1.0000
12:122035428:G:A	donor_loss	1.0000
12:122035428:G:GG	donor_gain	1.0000
12:122035429:T:A	donor_loss	1.0000
12:122035430:GAGT:G	donor_loss	1.0000
12:122043884:A:AG	acceptor_gain	1.0000
12:122043885:G:GG	acceptor_gain	1.0000
12:122043885:GAC:G	acceptor_gain	1.0000
12:122044050:GAAG:G	donor_gain	1.0000
12:122044054:G:GG	donor_gain	1.0000

AlphaMissense

1401 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:122022102:G:T	R4M	1.000
12:122022113:G:C	A8P	1.000
12:122022114:C:A	A8D	1.000
12:122022116:G:A	E9K	1.000
12:122022119:A:C	T10P	1.000
12:122022120:C:T	T10M	1.000
12:122022122:A:G	R11G	1.000
12:122022122:A:T	R11W	1.000
12:122022123:G:C	R11T	1.000
12:122022123:G:T	R11M	1.000
12:122022124:G:C	R11S	1.000
12:122022124:G:T	R11S	1.000
12:122022125:A:C	S12R	1.000
12:122022127:C:A	S12R	1.000
12:122022127:C:G	S12R	1.000
12:122022129:G:C	R13P	1.000
12:122022131:G:C	A14P	1.000
12:122022132:C:A	A14D	1.000
12:122022135:A:T	K15I	1.000
12:122022136:A:C	K15N	1.000
12:122022136:A:T	K15N	1.000
12:122022137:G:C	D16H	1.000
12:122022140:G:C	D17H	1.000
12:122022141:A:C	D17A	1.000
12:122022141:A:G	D17G	1.000
12:122022141:A:T	D17V	1.000
12:122022148:G:C	K19N	1.000
12:122022148:G:T	K19N	1.000
12:122022150:G:T	R20M	1.000
12:122022151:G:C	R20S	1.000

dbSNP variants (sampled 300 via entrez): RS1000006509 (12:122052488 A>C), RS1000062603 (12:122058385 A>T), RS1000331779 (12:122043255 T>A,C), RS1000378812 (12:122043493 C>T), RS1000463367 (12:122037643 C>T), RS1000530311 (12:122033232 C>A), RS1000558316 (12:122039111 A>G), RS1000592563 (12:122033663 C>T), RS1000657375 (12:122032557 G>C), RS1000688922 (12:122043735 C>A), RS1000705742 (12:122026009 C>T), RS1000722940 (12:122030436 G>A), RS1000798573 (12:122038987 C>A,T), RS1000893801 (12:122059454 G>A), RS1000979511 (12:122021091 G>A,C)

Disease associations

OMIM: gene MIM:601406 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002184_10	Mean platelet volume	6.000000e-38
GCST002647_148	Height	2.000000e-13
GCST004068_23	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	4.000000e-06
GCST004602_165	Mean corpuscular volume	2.000000e-09
GCST010989_52	Body size at age 10	1.000000e-10
GCST012227_559	Hip circumference adjusted for BMI	4.000000e-08
GCST90002397_221	Mean spheric corpuscular volume	9.000000e-16
GCST90020024_237	A body shape index	6.000000e-12
GCST90020025_107	Waist-to-hip ratio adjusted for BMI	5.000000e-20
GCST90020027_1685	Waist-hip index	1.000000e-19
GCST90020028_954	Hip circumference adjusted for BMI	3.000000e-08
GCST90020029_466	Waist circumference adjusted for body mass index	1.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009819	comparative body size at age 10, self-reported
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4630829 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases methylation	6
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tretinoin	decreases expression	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
epigallocatechin gallate	affects cotreatment, increases expression	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
2,2’,4,4’-tetrabromodiphenyl ether	affects methylation	1
dorsomorphin	affects cotreatment, decreases expression	1
MRK 003	increases expression	1
Bortezomib	decreases expression	1
Irinotecan	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Benzo(a)pyrene	affects methylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Doxorubicin	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
CHEMBL4615404	Binding	Binding affinity to BCL7A in human HuT78 cells nuclear and chromatin extracts at 10 uM incubated for 45 mins by mass spectrometry based chemoproteomic binding assay	Application of Atypical Acetyl-lysine Methyl Mimetics in the Development of Selective Inhibitors of the Bromodomain-Containing Protein 7 (BRD7)/Bromodomain-Containing Protein 9 (BRD9) Bromodomains. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SF01	HAP1 BCL7A (-) 1	Cancer cell line	Male
CVCL_XM01	HAP1 BCL7A (-) 2	Cancer cell line	Male
CVCL_XM02	HAP1 BCL7A (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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