TF information

TF name: SREBF2
TF family: bHLH
Ensembl gene ID: ENSG00000198911
Ensembl protein ID: ENSP00000395728, ENSP00000484441, ENSP00000354476
Entrez gene ID: 6721
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of SREBF2 in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_02_183Cell lineSkinSKMEL20.20512820512821
Sample_02_237Cell lineColonV3890.19223265230996
Sample_02_242Cell lineColonV4810.3045247708774
Sample_02_296Cell lineNeuroblastomaCLB-BER-Lud0.096403978576894
Sample_02_304Cell lineNeuroblastomaN2060.063858695652174
Sample_02_312Cell lineNeuroblastomaSK-N-BE_2-C0.14893617021277
Sample_02_322Cell lineColonCaco-20.84253028263795
Sample_02_354Cell lineColonColo2050.45495495495495
Sample_02_355Cell lineColonHCT150.2797619047619
Sample_02_424Cell lineColonSW6200.47826086956522

SREBF2 distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name
Sample_02_322ColonCell lineCaco-2

SREBF2 distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with SREBF2
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Mutation of SREBF2
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of SREBF2

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
-chr224227334242273342CGexonicSREBF2nonsynonymous LIHC|1|373|0.00268
-chr224227325842273258CTexonicSREBF2nonsynonymous BRCA|1|982|0.00102
rs760365601chr224227163642271636-CexonicSREBF2frameshift BRCA|1|982|0.00102,KIPAN|10|799|0.01252,KIRC|10|451|0.02217,STAD|1|395|0.00253,STES|1|395|0.00253
rs372007376chr224230150342301503CTexonicSREBF2nonsynonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr224229315942293159GTexonicSREBF2nonsynonymous SKCM|1|368|0.00272
-chr224226689942266899GTexonicSREBF2nonsynonymous SKCM|1|368|0.00272
-chr224229312842293128CTexonicSREBF2synonymous SKCM|1|368|0.00272
-chr224226283942262839GAexonicSREBF2nonsynonymous UCEC|1|248|0.00403
-chr224226295042262951CA-exonicSREBF2frameshift ESCA|1|185|0.00541,HNSC|1|512|0.00195,PAAD|11|185|0.05946,PCPG|1|184|0.00543,PRAD|2|499|0.00401,SKCM|2|368|0.00543,STAD|1|395|0.00253,STES|1|395|0.00253,THCA|1|504|0.00198,THYM|2|123|0.01626
-chr224226461742264617CAexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224229316142293161CTexonicSREBF2synonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr224226995342269953ATexonicSREBF2nonsynonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
-chr224226303742263037AGexonicSREBF2synonymous COAD|2|367|0.00545,COADREAD|2|489|0.00409
-chr224229312542293125C-exonicSREBF2frameshift STAD|1|395|0.00253,STES|1|395|0.00253
rs755066563chr224226699842266998GAexonicSREBF2nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr224227166242271662CAexonicSREBF2synonymous UCEC|1|248|0.00403
-chr224226998442269984CAexonicSREBF2synonymous UCEC|1|248|0.00403
rs756793996chr224228095542280955CTexonicSREBF2synonymous SKCM|1|368|0.00272
-chr224227687542276875GTexonicSREBF2nonsynonymous UCEC|1|248|0.00403
rs753385840chr224230096142300961CTexonicSREBF2nonsynonymous PAAD|1|185|0.00541
-chr224229084342290843CTexonicSREBF2synonymous BRCA|1|982|0.00102
-chr224226703142267031CTexonicSREBF2stopgain CESC|1|194|0.00515
rs764977781chr224228918842289188GAexonicSREBF2nonsynonymous ESCA|1|185|0.00541,UCEC|1|248|0.00403
-chr224226470042264700CTexonicSREBF2synonymous UCEC|1|248|0.00403
-chr224226700842267008CTexonicSREBF2nonsynonymous SKCM|1|368|0.00272
-chr224228916642289166ATexonicSREBF2nonsynonymous LUSC|1|178|0.00562
-chr224229471842294718GTexonicSREBF2nonsynonymous HNSC|1|512|0.00195
-chr224226477142264771CAexonicSREBF2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs748435330chr224227162242271622AGexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224227688442276884CTexonicSREBF2synonymous LUAD|1|543|0.00184
-chr224227339942273399GAexonicSREBF2nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr224226982542269825CTexonicSREBF2synonymous COAD|2|367|0.00545,COADREAD|2|489|0.00409
-chr224226306242263062-CexonicSREBF2frameshift COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr224227678042276780CAexonicSREBF2nonsynonymous SARC|1|247|0.00405
-chr224228918342289183CTexonicSREBF2synonymous SKCM|2|368|0.00543
-chr224224595042245950-GATCGAGAintronicSREBF2unknown -
-chr224227335142273351AGexonicSREBF2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr224226692842266928CTexonicSREBF2synonymous SKCM|1|368|0.00272
-chr224229472142294721GAexonicSREBF2nonsynonymous CESC|1|194|0.00515
-chr224229902442299024CTexonicSREBF2synonymous UCS|1|57|0.01754
rs200493376chr224228087442280874CTexonicSREBF2synonymous LIHC|1|373|0.00268
-chr224227334042273340TGexonicSREBF2synonymous UCS|1|57|0.01754
-chr224226299042262990GTexonicSREBF2stopgain COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr224227340142273401CTexonicSREBF2nonsynonymous UCEC|1|248|0.00403
rs143287516chr224227326542273265GAexonicSREBF2synonymous PCPG|1|184|0.00543
-chr224226691242266914TCA-exonicSREBF2nonframeshift KIPAN|1|799|0.00125,KIRC|1|451|0.00222
rs375253567chr224229466442294664AGexonicSREBF2nonsynonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
-chr224226997342269973AGexonicSREBF2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr224227402642274026GAexonicSREBF2nonsynonymous LAML|1|197|0.00508
-chr224226317642263176CGexonicSREBF2nonsynonymous BLCA|1|396|0.00253
-chr224226294042262940GAexonicSREBF2nonsynonymous BLCA|1|396|0.00253
rs369078163chr224226305842263058GAexonicSREBF2synonymous UCEC|1|248|0.00403
-chr224226286442262864GCexonicSREBF2nonsynonymous SKCM|1|368|0.00272
-chr224226472942264729GCexonicSREBF2nonsynonymous LUAD|1|543|0.00184
-chr224226286642262866A-exonicSREBF2frameshift STAD|1|395|0.00253,STES|1|395|0.00253
-chr224227323942273239G-exonicSREBF2frameshift BLCA|1|396|0.00253
-chr224226462242264622GAexonicSREBF2synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224226285242262852AGexonicSREBF2nonsynonymous LUSC|1|178|0.00562
rs778847006chr224227141342271413CTexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253,UCEC|1|248|0.00403
-chr224227159942271599GTexonicSREBF2synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224226311042263110CTexonicSREBF2nonsynonymous SKCM|2|368|0.00543
-chr224226986642269866TCexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224226328642263286TCsplicingSREBF2splicing SKCM|1|368|0.00272
rs781475168chr224226315042263150CTexonicSREBF2nonsynonymous SKCM|2|368|0.00543
rs755835024chr224226299042262990GAexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs767557693chr224226995642269956GAexonicSREBF2nonsynonymous HNSC|1|512|0.00195,UCEC|1|248|0.00403
rs201061816chr224227690242276902GCexonicSREBF2synonymous BRCA|1|982|0.00102
-chr224226314742263147GAexonicSREBF2nonsynonymous PRAD|1|499|0.00200
-chr224228916342289163CAexonicSREBF2nonsynonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr224227155442271554A-exonicSREBF2frameshift ACC|1|90|0.01111
-chr224227676242276762GAexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224229641842296418CTexonicSREBF2synonymous SKCM|1|368|0.00272
-chr224224595042245950-GATCGAGTintronicSREBF2unknown -
-chr224226691442266914ATexonicSREBF2nonsynonymous LUAD|2|543|0.00368
-chr224228919842289198CTexonicSREBF2synonymous TGCT|1|155|0.00645
rs745588418chr224226695742266957GAexonicSREBF2nonsynonymous PAAD|1|185|0.00541
rs781489533chr224227155242271552CTexonicSREBF2synonymous SKCM|1|368|0.00272
-chr224229306242293062CTexonicSREBF2synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr224227171142271711CGexonicSREBF2nonsynonymous BLCA|1|396|0.00253
-chr224227163742271637C-exonicSREBF2frameshift PAAD|3|185|0.01622,STAD|1|395|0.00253,STES|1|395|0.00253
-chr224229906742299067TCexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224227679842276798GAexonicSREBF2nonsynonymous BLCA|1|396|0.00253
-chr224228920142289201C-exonicSREBF2frameshift STAD|3|395|0.00759,STES|3|395|0.00759
-chr224226298242262982GAexonicSREBF2nonsynonymous THCA|1|504|0.00198
-chr224226295142262951AGexonicSREBF2nonsynonymous UCEC|1|248|0.00403
-chr224226293442262934GTexonicSREBF2nonsynonymous UCEC|1|248|0.00403
rs146289041chr224227333442273334CTexonicSREBF2synonymous SKCM|1|368|0.00272
rs373113186chr224226323242263232GAexonicSREBF2synonymous BLCA|1|396|0.00253
-chr224227332442273324CTexonicSREBF2nonsynonymous SKCM|1|368|0.00272
-chr224227400442274004T-exonicSREBF2frameshift ESCA|1|185|0.00541
-chr224226285342262853-TexonicSREBF2frameshift ACC|1|90|0.01111
-chr224227672042276720GTexonicSREBF2stopgain KIPAN|2|799|0.00250,KIRC|2|451|0.00443
rs753747422chr224227677942276779AGexonicSREBF2synonymous SARC|1|247|0.00405
-chr224226998842269988GAexonicSREBF2nonsynonymous UCEC|1|248|0.00403
-chr224226474942264749CTexonicSREBF2nonsynonymous SKCM|1|368|0.00272
-chr224229306242293062CAexonicSREBF2nonsynonymous UCEC|1|248|0.00403
-chr224228095042280950GCexonicSREBF2nonsynonymous BLCA|1|396|0.00253
-chr224226997942269979AGexonicSREBF2nonsynonymous LIHC|1|373|0.00268
rs766904764chr224228101642281016GAsplicingSREBF2splicing BRCA|1|982|0.00102
-chr224226310342263103CTexonicSREBF2synonymous SKCM|1|368|0.00272
rs781174022chr224227401342274013CTexonicSREBF2synonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr224227396342273963GCexonicSREBF2nonsynonymous BRCA|1|982|0.00102
-chr224226695342266953GCexonicSREBF2nonsynonymous BLCA|1|396|0.00253
-chr224226700742267007ACexonicSREBF2nonsynonymous BRCA|1|982|0.00102
rs760768724chr224229473342294733CTexonicSREBF2nonsynonymous UCEC|1|248|0.00403
-chr224226465242264652CTexonicSREBF2synonymous SKCM|1|368|0.00272
-chr224228921742289217T-exonicSREBF2frameshift KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr224226695842266958CTexonicSREBF2synonymous LIHC|1|373|0.00268
-chr224226296442262964GAexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs141892188chr224227682442276824CTexonicSREBF2synonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs140257167chr224224592842245928-TCAGGAGATCGAGACCAintronicSREBF2unknown -
-chr224229083742290837GAexonicSREBF2synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224226995142269951GTexonicSREBF2nonsynonymous UCEC|1|248|0.00403
-chr224226692442266924ATexonicSREBF2nonsynonymous HNSC|1|512|0.00195
rs760363309chr224227685842276858GAexonicSREBF2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr224227136942271369CGexonicSREBF2nonsynonymous OV|1|469|0.00213
-chr224226982542269825CGexonicSREBF2synonymous OV|1|469|0.00213
-chr224227167642271676CGexonicSREBF2nonsynonymous BRCA|1|982|0.00102
-chr224228101342281013GTexonicSREBF2nonsynonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
rs199689929chr224227341842273418CTexonicSREBF2synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs370413839chr224229646742296467GAexonicSREBF2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs774875916chr224230095242300952GAexonicSREBF2nonsynonymous UCEC|1|248|0.00403
-chr224227329342273293CTexonicSREBF2nonsynonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
rs760693739chr224226997442269974AGexonicSREBF2nonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
rs747929744chr224228922942289229CTexonicSREBF2nonsynonymous UCEC|1|248|0.00403
-chr224229907842299078AGexonicSREBF2synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs377649542chr224227685342276853GAexonicSREBF2nonsynonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
rs867776373chr224228088842280888CTexonicSREBF2nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
rs769759580chr224227683142276831CTexonicSREBF2nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr224229316642293166GTsplicingSREBF2splicing TGCT|1|155|0.00645
rs778125858chr224227692942276929CTexonicSREBF2synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204,STAD|1|395|0.00253,STES|1|395|0.00253
rs757074741chr224230091442300914CTexonicSREBF2synonymous LUSC|1|178|0.00562
-chr224226470542264705GAexonicSREBF2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204,HNSC|1|512|0.00195
-chr224224592742245927-TCAGGAGATCGAGACCAintronicSREBF2unknown -
rs780320915chr224227143142271431CTexonicSREBF2synonymous UCEC|1|248|0.00403
-chr224227687242276872CTexonicSREBF2synonymous SKCM|1|368|0.00272
-chr224228084642280846GTexonicSREBF2nonsynonymous HNSC|1|512|0.00195
-chr224229089042290890TCexonicSREBF2nonsynonymous DLBC|1|48|0.02083
-chr224226324442263244GAexonicSREBF2synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr224226315742263157CTexonicSREBF2synonymous UCEC|1|248|0.00403
-chr224226469642264696ATexonicSREBF2nonsynonymous PRAD|1|499|0.00200
-chr224226995542269955CTexonicSREBF2stopgain COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr224229090742290907ATexonicSREBF2stopgain LUSC|1|178|0.00562
-chr224226985942269859GCexonicSREBF2nonsynonymous BLCA|1|396|0.00253
-chr224227394642273946GTexonicSREBF2nonsynonymous LIHC|1|373|0.00268
rs2229439chr224227136342271363GAexonicSREBF2nonsynonymous LUAD|3|543|0.00552
-chr224226990042269900GTexonicSREBF2nonsynonymous SKCM|1|368|0.00272
rs776255333chr224227166842271668TCexonicSREBF2synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs147075621chr224226305742263057CTexonicSREBF2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr224227409742274097CTexonicSREBF2synonymous SKCM|1|368|0.00272

Disease information of SREBF2
TF_name Disease_name Disease_class Disease_semantic_type TF_disease_source
SREBF2 Malignant neoplasm of breast C04;C17 Neoplastic Process UNIPROT
SREBF2 Hypercholesterolemia, Familial C16;C18 Disease or Syndrome GENOMICS_ENGLAND
SREBF2 Insulin Resistance C18 Pathologic Function CTD_human
SREBF2 Kidney Failure, Chronic C12;C13 Disease or Syndrome CTD_human
SREBF2 Malignant neoplasm of stomach C04;C06 Neoplastic Process CTD_human
SREBF2 Schizophrenia F03 Mental or Behavioral Dysfunction PSYGENET
SREBF2 Stomach Neoplasms C04;C06 Neoplastic Process CTD_human
SREBF2 Cataract C11 Acquired Abnormality GENOMICS_ENGLAND
SREBF2 Disease Exacerbation C23 Finding CTD_human
SREBF2 Insulin Sensitivity C18 Pathologic Function CTD_human
SREBF2 Hereditary Diffuse Gastric Cancer C04;C06 Neoplastic Process CTD_human
SREBF2 Liver carcinoma C04;C06 Neoplastic Process CTD_human
SREBF2 Intellectual Disability C10;C23;F01;F03 Mental or Behavioral Dysfunction GENOMICS_ENGLAND

Pathway associated with SREBF2
pathway_ID pathway_name pathway_source gene_number edge_number
pathway0000069 Activation of gene expression by SREBF (SREBP) reactome 42 266
pathway0001828 Regulation of cholesterol biosynthesis by SREBP (SREBF) reactome 15 53
pathway0002719 Hs_Apoptosis_WP254_88977 wikipathways 31 127
pathway0002806 Hs_Sterol_Regulatory_Element-Binding_Proteins_(SREBP)_signalling_WP1982_90425 wikipathways 15 31

Go term information of SREBF2
GO_term_name GO_term_type TF_name
GO_REGULATION_OF_PROTEIN_TARGETING_TO_MITOCHONDRION BP SREBF2
GO_REGULATION_OF_LIPID_STORAGE BP SREBF2
GO_REGULATION_OF_CHOLESTEROL_HOMEOSTASIS BP SREBF2
GO_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS BP SREBF2
GO_RESPONSE_TO_FLUID_SHEAR_STRESS BP SREBF2
GO_REGULATION_OF_RESPONSE_TO_EXTRACELLULAR_STIMULUS BP SREBF2
GO_CELLULAR_RESPONSE_TO_FLUID_SHEAR_STRESS BP SREBF2
GO_REGULATION_OF_CHOLESTEROL_EFFLUX BP SREBF2
GO_POSITIVE_REGULATION_OF_CYTOPLASMIC_TRANSPORT BP SREBF2
GO_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION BP SREBF2
GO_RESPONSE_TO_LOW_DENSITY_LIPOPROTEIN_PARTICLE BP SREBF2
GO_REGULATION_OF_MITOPHAGY BP SREBF2
GO_REGULATION_OF_STEROL_TRANSPORT BP SREBF2
GO_RESPONSE_TO_LIPOPROTEIN_PARTICLE BP SREBF2
GO_NEGATIVE_REGULATION_OF_LIPID_TRANSPORT BP SREBF2
GO_CELLULAR_RESPONSE_TO_STARVATION BP SREBF2
GO_REGULATION_OF_CHOLESTEROL_STORAGE BP SREBF2
GO_NEGATIVE_REGULATION_OF_STEROL_TRANSPORT BP SREBF2
GO_POSITIVE_REGULATION_OF_LIPID_STORAGE BP SREBF2
GO_STEROL_METABOLIC_PROCESS BP SREBF2
GO_NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER BP SREBF2
GO_RESPONSE_TO_LAMINAR_FLUID_SHEAR_STRESS BP SREBF2
GO_INTRACELLULAR_VESICLE CC SREBF2
GO_ER_TO_GOLGI_TRANSPORT_VESICLE_MEMBRANE CC SREBF2
GO_TRANSPORT_VESICLE_MEMBRANE CC SREBF2
GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_BINDING MF SREBF2
GO_PROTEIN_C_TERMINUS_BINDING MF SREBF2
GO_E_BOX_BINDING MF SREBF2
GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING MF SREBF2
GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY_TRANSPOSING_C_C_BONDS MF SREBF2
GO_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY MF SREBF2

Survival analysis of SREBF2



Calculate the hazards ratio based on Cox PH Model.
Add the 95% CI as dotted line.

Expression of SREBF2