SOX7

Summary

SOX7 (SRY-box transcription factor 7, HGNC:18196) is a protein-coding gene on chromosome 8p23.1, encoding Transcription factor SOX-7 (Q9BT81). Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors.

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway.

Source: NCBI Gene 83595 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital heart disease (Limited, ClinGen)
• GWAS associations: 56
• Clinical variants (ClinVar): 92 total
• MANE Select transcript: NM_031439

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18196
Approved symbol	SOX7
Name	SRY-box transcription factor 7
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171056
Ensembl biotype	protein_coding
OMIM	612202
Entrez	83595

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000304501

RefSeq mRNA: 1 — MANE Select: NM_031439 NM_031439

CCDS: CCDS5977

Canonical transcript exons

ENST00000304501 — 2 exons

Exon	Start	End
ENSE00001166850	10723768	10726666
ENSE00001166856	10730196	10730511

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 91.11.

FANTOM5 (CAGE): breadth broad, TPM avg 5.8437 / max 343.9159, expressed in 489 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91811	5.6429	475
91812	0.2008	132

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	91.11	gold quality
placenta	UBERON:0001987	89.40	gold quality
vagina	UBERON:0000996	88.19	gold quality
esophagus mucosa	UBERON:0002469	87.07	gold quality
omental fat pad	UBERON:0010414	84.27	gold quality
apex of heart	UBERON:0002098	84.23	gold quality
skin of abdomen	UBERON:0001416	83.56	gold quality
adipose tissue	UBERON:0001013	82.34	gold quality
zone of skin	UBERON:0000014	81.82	gold quality
upper lobe of left lung	UBERON:0008952	81.36	gold quality
lung	UBERON:0002048	81.32	gold quality
heart left ventricle	UBERON:0002084	81.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.19	gold quality
esophagus	UBERON:0001043	81.09	gold quality
subcutaneous adipose tissue	UBERON:0002190	80.81	gold quality
skin of leg	UBERON:0001511	80.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.46	gold quality
ectocervix	UBERON:0012249	79.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.41	gold quality
right lung	UBERON:0002167	79.32	gold quality
heart	UBERON:0000948	78.85	gold quality
gastrocnemius	UBERON:0001388	78.58	gold quality
skeletal muscle tissue	UBERON:0001134	78.52	gold quality
muscle of leg	UBERON:0001383	78.16	gold quality
thoracic mammary gland	UBERON:0005200	77.82	gold quality
gall bladder	UBERON:0002110	77.77	gold quality
right atrium auricular region	UBERON:0006631	77.62	gold quality
uterine cervix	UBERON:0000002	76.95	gold quality
muscle tissue	UBERON:0002385	76.41	gold quality
minor salivary gland	UBERON:0001830	75.78	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8271	yes	386.34
E-GEOD-135922	yes	42.70
E-ANND-3	yes	16.22
E-MTAB-6701	yes	12.28
E-GEOD-130148	yes	6.33

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

6 targets.

Target	Regulation
CDH5	Unknown
DLL4
FGF3	Activation
GATA4
GATA6
LAMA1	Unknown

Upstream regulators (CollecTRI, top): CHD8, FOS, JUN

miRNA regulators (miRDB)

109 targeting SOX7, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-556-3P	99.74	68.75	1203

Literature-anchored findings (GeneRIF, showing 40)

• gene expression, chromosome mapping, transactivation, interference with Wnt signaling (PMID:11691915)
• stable endoderm progenitors can be established from human ES cells by constitutive expression of SOX7 producing extraembryonic endoderm progenitors (PMID:18682240)
• Sox7 is a tumor suppressor that functions as an independent checkpoint for beta-catenin transcriptional activity. Inactivation of Sox7 could promote the development of a majority of colorectal tumors and approximately half of prostate tumors. (PMID:18819930)
• stable expression induces a stable expandable extra embryonic endoderm phenotype in hESCs (PMID:18940723)
• SOX7, down-regulated in colorectal cancer, induces apoptosis and inhibits proliferation of colorectal cancer cells. (PMID:19108950)
• Data show that SOX7 is upregulated by aspirin and is involved in aspirin-mediated growth inhibition of human colorectal cancer SW480 cells. (PMID:22171135)
• The methylation of the CpG island of the SOX7 gene can be used as a predictive factor for the development and prognosis of myelodysplastic syndrome patients. (PMID:22706399)
• Association of SOX7 protein expression with clinical outcomes was evaluated. SOX7 mRNA expression was significantly down-regulated in lung adenocarcinoma compared with matched adjacent normal tissues. (PMID:22777918)
• Sox7 is a negative regulator of Wnt/beta-catenin signaling pathway through impeding the transcriptional machinery of beta-catenin/TCF/LEF-1 transcriptional complex, and the loss of expression may be involved in the pathogenesis of endometrial cancer. (PMID:23295859)
• SOX7 is a novel tumor suppressor gene silenced in the majority of NSCLC samples. (PMID:23557216)
• SOX7 acts as a tumor suppressor in breast cancer. (PMID:24012678)
• miR-184 represents a potential onco-miR and plays an important role in HCC progression by suppressing SOX7 expression (PMID:24558429)
• Decreased expression of Sox7 correlates with the upregulation of the Wnt/beta-catenin signaling pathway and the poor survival of gastric cancer patients. (PMID:24788044)
• SOX7 plays an important inhibitory role in hepatocarcinogenesis, and might be a novel target for hepatocellular carcinoma therapy. (PMID:24816720)
• Low SOX7 expression is associated with hepatocellular carcinoma. (PMID:25073511)
• The expression of SOX7 correlates with tumor progression as a tumor suppressor, possibly through the Wnt/beta-catenin signaling pathway in ovarian cancers, suggesting that SOX7 may be a promising prognostic marker. (PMID:25297608)
• Ectopic expression of miR-492 led to downregulation of SOX7 protein. (PMID:25407488)
• The results provided unequivocal evidence for a novel tumor suppressor role of SOX7 in acute myeloid leukemia (PMID:25940713)
• The results suggest that miR-664 functions as an oncogene miRNA and has an important role in promoting human osteosarcoma cell invasion and migration by suppressing SOX7 expression. (PMID:26515813)
• the HMG-box is a key domain of SOX7 for negatively regulating the Wnt/beta-catenin signaling pathway when functioning as a tumor suppressor in a glioma. (PMID:26944317)
• miR-935 contributed to cell proliferation of gastric cancer through targeting SOX7. (PMID:27044823)
• miR-595 played a critical role in carcinogenesis by suppression of SOX7. (PMID:27133048)
• SOX7 transcription factor mediates PDGF-BB-induced IL-33 expression. (PMID:27150562)
• Consistent with bioinformatics predictions, SOX7 was correlated positively with AXIN2 and negatively with beta-catenin, suggesting that SOX7 and AXIN2 might play important roles as co-regulators through the Wnt-beta-catenin pathway in the breast tissue to affect the carcinogenesis process. (PMID:27188720)
• Aberrant methylation of the promoter regions of the SOX7 gene in patients with acute myeloid leukemias. (PMID:27459612)
• Overexpression of miR-935 inhibited SOX7 expression. (PMID:27697092)
• miR-9 was up-regulated and SOX7 was down-regulated in human non-small-cell lung cancer tissues and cell lines. (PMID:28266181)
• The results indicate that SOX7 may inhibit the progression of liver carcinoma and that SOX7 downregulation may accurately predict poor prognosis in liver carcinoma patients. (PMID:28586005)
• These results provide the first clue that miR-24-3p could play a role as an oncomiR in Lung cancer by regulating SOX7. (PMID:29231262)
• SOX7 inhibits oncogenic beta-catenin-mediated transcription by disrupting the beta-catenin/BCL9 interaction. (PMID:29271667)
• miR-616 acted as a tumor promoter in glioma, and its oncogenic roles were involved in the regulation of SOX7 and Wnt/beta-catenin signaling. (PMID:29271996)
• Sox7 promotes tumor growth via vessel abnormalization, and its level determines the therapeutic outcome of VEGFR2 inhibition in High-grade glioma. (PMID:29444818)
• we have identified an array of potential target genes of SOX7 and examined four of them for their roles in SOX7-mediated tumor suppression. We found that SOX7 could both activate and repress its target genes; and achieve its antiproliferative function through regulating multiple genes simultaneously. (PMID:29757932)
• Low SOX7 expression is associated with renal cell carcinoma. (PMID:29957056)
• MiR-494-3p promotes nasopharyngeal carcinoma cell growth, migration, and invasion by directly targeting Sox7. (PMID:30381030)
• inactivation of canonical SRY-box transcription factor 7( Sox7 )is responsible for the upregulated expression of prostate-specific membrane antigen (PSMA) in non-metastatic prostate cancer (PMID:30488457)
• Our findings demonstrated that SOX7 methylation conferred adverse prognosis in myelodysplastic syndrome patients and was associated with leukemia progression. (PMID:30554866)
• An unappreciated role of SOX7 in regulation of cellular apoptosis through control of MAPK/ERK-BIM signaling. (PMID:31332289)
• LncRNA HAND2-AS1 sponging miR-1275 restrains proliferation and metastasis of breast cancer cells by regulating SOX7 expression. (PMID:31683462)
• SOX7 is involved in polyphyllin D-induced G0/G1 cell cycle arrest through down-regulation of cyclin D1. (PMID:31955140)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	sox7	ENSDARG00000030125
mus_musculus	Sox7	ENSMUSG00000063060
rattus_norvegicus	Sox7	ENSRNOG00000012049
drosophila_melanogaster	Sox14	FBGN0005612
drosophila_melanogaster	Sox21a	FBGN0036411
drosophila_melanogaster	Sox102F	FBGN0039938
caenorhabditis_elegans		WBGENE00001182
caenorhabditis_elegans		WBGENE00015716

Paralogs (20): SOX8 (ENSG00000005513), SOX30 (ENSG00000039600), SOX10 (ENSG00000100146), SOX6 (ENSG00000110693), SOX4 (ENSG00000124766), SOX21 (ENSG00000125285), SOX9 (ENSG00000125398), SOX15 (ENSG00000129194), SOX5 (ENSG00000134532), SOX3 (ENSG00000134595), SOX13 (ENSG00000143842), SOX17 (ENSG00000164736), SOX14 (ENSG00000168875), SOX11 (ENSG00000176887), SOX12 (ENSG00000177732), CFAP65 (ENSG00000181378), SOX2 (ENSG00000181449), SOX1 (ENSG00000182968), SRY (ENSG00000184895), SOX18 (ENSG00000203883)

Protein

Protein identifiers

Transcription factor SOX-7 — Q9BT81 (reviewed: Q9BT81)

All UniProt accessions (1): Q9BT81

UniProt curated annotations — full annotation on UniProt →

Function. Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors. May be required for the survival of both hematopoietic and endothelial precursors during specification. Competes with GATA4 for binding and activation of the FGF3 promoter. Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5’-AACAAT-3'.

Subunit / interactions. Interacts with CTNNB1/beta-catenin; this interaction may lead to the proteasomal degradation of active CTNNB1 and thus inhibition of Wnt/beta-catenin-stimulated transcription.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Widely expressed in adult and fetal tissues. Present both in mesenchymal and epithelial cells in some adult tissues, including colon. Tends to be down-regulated in prostate adenocarcinomas and colorectal tumors due to promoter hypermethylation.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BT81-1	1	yes
Q9BT81-2	2

RefSeq proteins (1): NP_113627* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009071	HMG_box_dom	Domain
IPR021934	Sox_C	Domain
IPR033392	Sox7/17/18_central	Domain
IPR036910	HMG_box_dom_sf	Homologous_superfamily
IPR050140	SRY-related_HMG-box_TF-like	Family

Pfam: PF00505, PF12067

UniProt features (8 total): region of interest 2, compositionally biased region 2, chain 1, domain 1, DNA-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BT81-F1	61.38	0.22

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-3769402	Deactivation of the beta-catenin transactivating complex
R-HSA-162582	Signal Transduction
R-HSA-195721	Signaling by WNT
R-HSA-201681	TCF dependent signaling in response to WNT

MSigDB gene sets: 120 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, KYNG_ENVIRONMENTAL_STRESS_RESPONSE_NOT_BY_GAMMA_IN_WS, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_GASTRULATION, GOBP_ENDODERM_DEVELOPMENT, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, AFFAR_YY1_TARGETS_DN, GOBP_ENDODERM_FORMATION, GOBP_EMBRYO_DEVELOPMENT, CUI_TCF21_TARGETS_2_DN, KYNG_ENVIRONMENTAL_STRESS_RESPONSE_NOT_BY_UV_IN_OLD, NUYTTEN_EZH2_TARGETS_DN

GO Biological Process (8): endoderm formation (GO:0001706), cell differentiation (GO:0030154), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of transcription by RNA polymerase II (GO:0006357), tissue development (GO:0009888), positive regulation of DNA-templated transcription (GO:0045893), anatomical structure formation involved in morphogenesis (GO:0048646)

GO Molecular Function (9): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
TCF dependent signaling in response to WNT	1
Signal Transduction	1
Signaling by WNT	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	4
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
formation of primary germ layer	1
endoderm development	1
cellular developmental process	1
negative regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
anatomical structure development	1
positive regulation of RNA biosynthetic process	1
anatomical structure morphogenesis	1
developmental process	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
DNA binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1546 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOX7	MSRA	Q9UJ68	860
SOX7	RP1L1	Q8IWN7	858
SOX7	GATA4	P43694	810
SOX7	GATA6	P78327	765
SOX7	POU5F1	P31359	727
SOX7	CTNNB1	P35222	590
SOX7	FOXA2	Q9Y261	579
SOX7	NANOG	Q9H9S0	566
SOX7	FGF3	P11487	554
SOX7	ETV2	O00321	522
SOX7	MIXL1	Q9H2W2	513
SOX7	SOX18	P35713	484
SOX7	CDX2	Q99626	484
SOX7	WNT1	P04628	481
SOX7	VWF	P04275	474

IntAct

36 interactions, top by confidence:

A	B	Type	Score
SOX7	GLRX3	psi-mi:“MI:0915”(physical association)	0.560
GLRX3	SOX7	psi-mi:“MI:0915”(physical association)	0.560
SCAI	SOX7	psi-mi:“MI:0915”(physical association)	0.560
SOX7	APBB2	psi-mi:“MI:0915”(physical association)	0.560
SOX7		psi-mi:“MI:0915”(physical association)	0.560
HTT	SOX7	psi-mi:“MI:0915”(physical association)	0.560
Dlg4	SOX7	psi-mi:“MI:0407”(direct interaction)	0.440
MACROH2A1	SOX7	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (82): SOX7 (Two-hybrid), SOX7 (Proximity Label-MS), SOX7 (Synthetic Lethality), SCAI (Two-hybrid), H2AFY (Affinity Capture-MS), ARID1B (Proximity Label-MS), ARID1A (Proximity Label-MS), BCOR (Proximity Label-MS), KMT2D (Proximity Label-MS), NCOR2 (Proximity Label-MS), KMT2C (Proximity Label-MS), TCF20 (Proximity Label-MS), ARID2 (Proximity Label-MS), JMJD1C (Proximity Label-MS), EP300 (Proximity Label-MS)

ESM2 similar proteins: A0PJS5, A1YG01, A2D4R4, A2D649, A2T6H5, A2T6Z0, A3KNJ3, A7Y7W3, A8K830, F6W2R2, F8VPY8, O15353, O42506, O43186, O54751, P14653, P17919, P28322, P31276, P32243, P40646, P43268, P57082, P70056, P80206, P83758, Q00288, Q06710, Q08820, Q16633, Q1KL10, Q28GC4, Q28IU6, Q2KJA4, Q4G112, Q503Z8, Q64693, Q66IK1, Q66IT9, Q7T1C0

Diamond homologs: A0A0G2JTZ2, A2TED3, A5D8R3, B1H349, B3DLD3, B3DM43, F1M8W4, O42342, O42601, P0C1G9, P35710, P35711, P35712, P35713, P35716, P36389, P36390, P36393, P36394, P36396, P40645, P40646, P40647, P40649, P40650, P40656, P40657, P43680, P47792, P48433, P48435, Q03255, Q03257, Q04891, Q05738, Q06831, Q06945, Q20201, Q23045, Q27949

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CHD8	“down-regulates quantity”	SOX7	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	7
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

254 predictions. Top by Δscore:

Variant	Effect	Δscore
8:10726662:CTTTC:C	acceptor_gain	1.0000
8:10726664:TTC:T	acceptor_gain	1.0000
8:10726665:TC:T	acceptor_gain	1.0000
8:10726666:CC:C	acceptor_gain	1.0000
8:10726672:C:CT	acceptor_gain	1.0000
8:10726674:C:CT	acceptor_gain	1.0000
8:10730190:A:AC	donor_gain	1.0000
8:10730191:C:CC	donor_gain	1.0000
8:10730191:CTCA:C	donor_gain	1.0000
8:10730194:A:AC	donor_gain	1.0000
8:10730194:AC:A	donor_gain	1.0000
8:10730195:C:CC	donor_gain	1.0000
8:10730195:CC:C	donor_gain	1.0000
8:10730195:CCCAG:C	donor_gain	1.0000
8:10726663:TTTC:T	acceptor_gain	0.9900
8:10726668:T:G	acceptor_loss	0.9900
8:10730191:CT:C	donor_gain	0.9900
8:10730192:TCA:T	donor_loss	0.9900
8:10730192:TCACC:T	donor_gain	0.9900
8:10730193:CA:C	donor_loss	0.9900
8:10730193:CACCC:C	donor_gain	0.9900
8:10730194:ACC:A	donor_gain	0.9900
8:10730194:ACCC:A	donor_gain	0.9900
8:10730195:C:CG	donor_loss	0.9900
8:10730195:C:G	donor_gain	0.9900
8:10730195:CCC:C	donor_gain	0.9900
8:10730195:CCCA:C	donor_gain	0.9900
8:10726665:TCCTG:T	acceptor_loss	0.9800
8:10726666:CCT:C	acceptor_loss	0.9800
8:10726667:C:CC	acceptor_gain	0.9800

AlphaMissense

2498 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:10726564:T:C	Y114C	1.000
8:10726565:A:C	Y114D	1.000
8:10726565:A:G	Y114H	1.000
8:10726570:T:C	Y112C	1.000
8:10726571:A:C	Y112D	1.000
8:10726571:A:G	Y112H	1.000
8:10726590:G:C	H105Q	1.000
8:10726590:G:T	H105Q	1.000
8:10726591:T:C	H105R	1.000
8:10726592:G:C	H105D	1.000
8:10726592:G:T	H105N	1.000
8:10726603:A:G	L101P	1.000
8:10726606:C:G	R100P	1.000
8:10726613:C:G	A98P	1.000
8:10726632:C:A	K91N	1.000
8:10726632:C:G	K91N	1.000
8:10726648:A:G	L86P	1.000
8:10726656:C:A	W83C	1.000
8:10726656:C:G	W83C	1.000
8:10726657:C:G	W83S	1.000
8:10726658:A:C	W83G	1.000
8:10726658:A:G	W83R	1.000
8:10726658:A:T	W83R	1.000
8:10726666:C:A	G80V	1.000
8:10726666:C:T	G80E	1.000
8:10730196:C:G	G80R	1.000
8:10730196:C:T	G80R	1.000
8:10730198:A:G	L79P	1.000
8:10730198:A:T	L79Q	1.000
8:10730203:C:A	K77N	1.000

dbSNP variants (sampled 300 via entrez): RS1000177021 (8:10730449 G>A), RS1000250441 (8:10730558 C>T), RS1000259362 (8:10725414 C>T), RS1000636595 (8:10724605 G>A), RS1000691777 (8:10725611 G>A), RS1000966391 (8:10724397 G>A), RS1001091106 (8:10728619 C>A), RS1001462247 (8:10727979 T>C), RS1001730500 (8:10725334 C>A), RS1002075187 (8:10725484 C>G), RS1002313524 (8:10732385 T>A,C), RS1002670936 (8:10724396 G>A,C), RS1002728145 (8:10724249 G>A), RS1003030666 (8:10731136 C>G,T), RS1003104766 (8:10726725 T>G)

Disease associations

OMIM: gene MIM:612202 | disease phenotypes:

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
congenital heart disease	Limited	AD

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

56 associations (top):

Study	Trait	p-value
GCST000847_5	Retinal vascular caliber	4.000000e-07
GCST003876_9	Gut microbiota (beta diversity)	5.000000e-08
GCST004610_162	White blood cell count	2.000000e-13
GCST004627_42	Lymphocyte count	3.000000e-09
GCST005576_29	Intracranial aneurysm	2.000000e-06
GCST006190_10	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-06
GCST006190_79	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	4.000000e-10
GCST006192_54	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-16
GCST006192_81	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-13
GCST006193_43	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-08
GCST006193_81	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-12
GCST006195_33	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-15
GCST006195_72	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	4.000000e-19
GCST007326_56	Number of sexual partners	3.000000e-09
GCST007556_1	Autism spectrum disorder	1.000000e-08
GCST007709_168	General factor of neuroticism	8.000000e-10
GCST007709_176	General factor of neuroticism	1.000000e-09
GCST007710_13	Anxiety/tension (special factor of neuroticism)	4.000000e-08
GCST010002_269	Refractive error	1.000000e-24
GCST010132_11	Processed meat consumption	4.000000e-10
GCST010132_14	Processed meat consumption	2.000000e-15
GCST010132_15	Processed meat consumption	1.000000e-09
GCST010142_4	Fish- and plant-related diet	2.000000e-12
GCST010142_6	Fish- and plant-related diet	3.000000e-12
GCST010142_63	Fish- and plant-related diet	2.000000e-12
GCST010142_67	Fish- and plant-related diet	1.000000e-10
GCST010142_70	Fish- and plant-related diet	8.000000e-10
GCST010142_89	Fish- and plant-related diet	4.000000e-16
GCST010142_90	Fish- and plant-related diet	7.000000e-15
GCST010173_58	Triglyceride levels	4.000000e-28

EFO canonical traits (20, from GWAS)

EFO ID	Trait name
EFO:0004731	eye measurement
EFO:0007874	gut microbiome measurement
EFO:0004587	lymphocyte count
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0007660	neuroticism measurement
EFO:0009863	anxiety measurement
EFO:0008111	diet measurement
EFO:0004530	triglyceride measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004736	aspartate aminotransferase measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tretinoin	affects expression, increases expression	3
Valproic Acid	affects expression, increases expression	2
dicrotophos	increases expression	1
bisphenol A	decreases methylation	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	increases expression	1
sodium arsenite	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Gasoline	increases abundance, increases expression, affects cotreatment	1
Indomethacin	decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Polycyclic Aromatic Hydrocarbons	increases abundance, increases expression, affects cotreatment	1
Potassium Dichromate	decreases expression	1
Progesterone	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Sodium Dodecyl Sulfate	decreases expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	increases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

7 cell lines: 7 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A6N5	SEES3-1V human SOX7, clone1	Embryonic stem cell	Male
CVCL_A6N6	SEES3-1V human SOX7, clone2	Embryonic stem cell	Male
CVCL_A6N7	SEES3-1V human SOX7, clone3	Embryonic stem cell	Male
CVCL_C3L2	MSHRIe001-A-SOX7 control 1	Embryonic stem cell	Male
CVCL_C3L3	MSHRIe001-A-SOX7 control 2	Embryonic stem cell	Male
CVCL_C3L4	MSHRIe001-A-SOX7 overexpressing 1	Embryonic stem cell	Male
CVCL_C3L5	MSHRIe001-A-SOX7 overexpressing 2	Embryonic stem cell	Male

Clinical trials (associated diseases)

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