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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for SREBF1 |
 Gene summary |
| Gene information | Gene symbol | SREBF1 | Gene ID | 6720 |
| Gene name | sterol regulatory element binding transcription factor 1 | |
| Synonyms | SREBP1|bHLHd1 | |
| Cytomap | 17p11.2 | |
| Type of gene | protein-coding | |
| Description | sterol regulatory element-binding protein 1class D basic helix-loop-helix protein 1 | |
| Modification date | 20180522 | |
| UniProtAcc | P36956 | |
| Context | PubMed: SREBF1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SREBF1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 26437365 |
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Exon skipping events across known transcript of Ensembl for SREBF1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for SREBF1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SREBF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_287036 | 17 | 17715068:17715098:17715286:17715370:17716681:17716756 | 17715286:17715370 | ENSG00000072310.12 | ENST00000578469.1 |
| exon_skip_287037 | 17 | 17715068:17715098:17715286:17715370:17716882:17717083 | 17715286:17715370 | ENSG00000072310.12 | ENST00000338854.5 |
| exon_skip_287046 | 17 | 17716025:17716165:17716681:17716793:17716882:17717036 | 17716681:17716793 | ENSG00000072310.12 | ENST00000395751.4,ENST00000395756.1,ENST00000395757.1,ENST00000261646.5,ENST00000355815.4 |
| exon_skip_287048 | 17 | 17716681:17716793:17716882:17717083:17717558:17717669 | 17716882:17717083 | ENSG00000072310.12 | ENST00000395751.4,ENST00000478616.1,ENST00000395756.1,ENST00000395757.1,ENST00000261646.5,ENST00000355815.4 |
| exon_skip_287051 | 17 | 17717657:17717724:17717928:17718061:17718148:17718258 | 17717928:17718061 | ENSG00000072310.12 | ENST00000395751.4,ENST00000395756.1,ENST00000395757.1,ENST00000261646.5,ENST00000338854.5,ENST00000355815.4 |
| exon_skip_287054 | 17 | 17718148:17718258:17718534:17718643:17719173:17719342 | 17718534:17718643 | ENSG00000072310.12 | ENST00000395751.4,ENST00000447641.1,ENST00000490796.1,ENST00000395756.1,ENST00000395757.1,ENST00000261646.5,ENST00000338854.5,ENST00000355815.4 |
| exon_skip_287056 | 17 | 17720271:17720450:17720569:17720771:17721009:17721214 | 17720569:17720771 | ENSG00000072310.12 | ENST00000395757.1,ENST00000261646.5,ENST00000338854.5,ENST00000355815.4 |
| exon_skip_287059 | 17 | 17720569:17720771:17720861:17720905:17721009:17721214 | 17720861:17720905 | ENSG00000072310.12 | ENST00000395751.4,ENST00000469356.3 |
| exon_skip_287062 | 17 | 17721009:17721230:17721573:17721688:17722326:17722548 | 17721573:17721688 | ENSG00000072310.12 | ENST00000395751.4,ENST00000395757.1,ENST00000435530.2,ENST00000261646.5,ENST00000338854.5,ENST00000355815.4 |
| exon_skip_287064 | 17 | 17721573:17721688:17722326:17722548:17722633:17722768 | 17722326:17722548 | ENSG00000072310.12 | ENST00000395751.4,ENST00000395757.1,ENST00000435530.2,ENST00000261646.5,ENST00000338854.5,ENST00000355815.4 |
| exon_skip_287066 | 17 | 17722857:17723039:17723403:17723835:17740040:17740131 | 17723403:17723835 | ENSG00000072310.12 | ENST00000435530.2,ENST00000261646.5,ENST00000338854.5 |
| exon_skip_287068 | 17 | 17723718:17723835:17726831:17726921:17740040:17740131 | 17726831:17726921 | ENSG00000072310.12 | ENST00000355815.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SREBF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_287036 | 17 | 17715068:17715098:17715286:17715370:17716681:17716756 | 17715286:17715370 | ENSG00000072310.12 | ENST00000578469.1 |
| exon_skip_287046 | 17 | 17716025:17716165:17716681:17716793:17716882:17717036 | 17716681:17716793 | ENSG00000072310.12 | ENST00000395756.1,ENST00000395757.1,ENST00000395751.4,ENST00000355815.4,ENST00000261646.5 |
| exon_skip_287048 | 17 | 17716681:17716793:17716882:17717083:17717558:17717669 | 17716882:17717083 | ENSG00000072310.12 | ENST00000395756.1,ENST00000395757.1,ENST00000395751.4,ENST00000355815.4,ENST00000261646.5,ENST00000478616.1 |
| exon_skip_287051 | 17 | 17717657:17717724:17717928:17718061:17718148:17718258 | 17717928:17718061 | ENSG00000072310.12 | ENST00000338854.5,ENST00000395756.1,ENST00000395757.1,ENST00000395751.4,ENST00000355815.4,ENST00000261646.5 |
| exon_skip_287054 | 17 | 17718148:17718258:17718534:17718643:17719173:17719342 | 17718534:17718643 | ENSG00000072310.12 | ENST00000338854.5,ENST00000395756.1,ENST00000395757.1,ENST00000395751.4,ENST00000355815.4,ENST00000261646.5,ENST00000447641.1,ENST00000490796.1 |
| exon_skip_287056 | 17 | 17720271:17720450:17720569:17720771:17721009:17721214 | 17720569:17720771 | ENSG00000072310.12 | ENST00000338854.5,ENST00000395757.1,ENST00000355815.4,ENST00000261646.5 |
| exon_skip_287059 | 17 | 17720569:17720771:17720861:17720905:17721009:17721214 | 17720861:17720905 | ENSG00000072310.12 | ENST00000395751.4,ENST00000469356.3 |
| exon_skip_287062 | 17 | 17721009:17721230:17721573:17721688:17722326:17722548 | 17721573:17721688 | ENSG00000072310.12 | ENST00000338854.5,ENST00000395757.1,ENST00000395751.4,ENST00000355815.4,ENST00000261646.5,ENST00000435530.2 |
| exon_skip_287064 | 17 | 17721573:17721688:17722326:17722548:17722633:17722768 | 17722326:17722548 | ENSG00000072310.12 | ENST00000338854.5,ENST00000395757.1,ENST00000395751.4,ENST00000355815.4,ENST00000261646.5,ENST00000435530.2 |
| exon_skip_287066 | 17 | 17722857:17723039:17723403:17723835:17740040:17740131 | 17723403:17723835 | ENSG00000072310.12 | ENST00000338854.5,ENST00000261646.5,ENST00000435530.2 |
| exon_skip_287068 | 17 | 17723718:17723835:17726831:17726921:17740040:17740131 | 17726831:17726921 | ENSG00000072310.12 | ENST00000355815.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SREBF1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000261646 | 17716681 | 17716793 | Frame-shift |
| ENST00000261646 | 17717928 | 17718061 | Frame-shift |
| ENST00000261646 | 17718534 | 17718643 | Frame-shift |
| ENST00000261646 | 17720569 | 17720771 | Frame-shift |
| ENST00000261646 | 17721573 | 17721688 | Frame-shift |
| ENST00000261646 | 17716882 | 17717083 | In-frame |
| ENST00000261646 | 17722326 | 17722548 | In-frame |
| ENST00000261646 | 17723403 | 17723835 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000261646 | 17716681 | 17716793 | Frame-shift |
| ENST00000261646 | 17717928 | 17718061 | Frame-shift |
| ENST00000261646 | 17718534 | 17718643 | Frame-shift |
| ENST00000261646 | 17720569 | 17720771 | Frame-shift |
| ENST00000261646 | 17721573 | 17721688 | Frame-shift |
| ENST00000261646 | 17716882 | 17717083 | In-frame |
| ENST00000261646 | 17722326 | 17722548 | In-frame |
| ENST00000261646 | 17723403 | 17723835 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SREBF1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000261646 | 4195 | 1147 | 17723403 | 17723835 | 277 | 708 | 30 | 174 |
| ENST00000261646 | 4195 | 1147 | 17722326 | 17722548 | 1032 | 1253 | 282 | 356 |
| ENST00000261646 | 4195 | 1147 | 17716882 | 17717083 | 3087 | 3287 | 967 | 1034 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000261646 | 4195 | 1147 | 17723403 | 17723835 | 277 | 708 | 30 | 174 |
| ENST00000261646 | 4195 | 1147 | 17722326 | 17722548 | 1032 | 1253 | 282 | 356 |
| ENST00000261646 | 4195 | 1147 | 17716882 | 17717083 | 3087 | 3287 | 967 | 1034 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for SREBF1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
SREBF1_PAAD_exon_skip_287059_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SARC | TCGA-DX-AATS-01 | exon_skip_287046 | 17716682 | 17716793 | 17716695 | 17716695 | Frame_Shift_Del | G | - | p.P1097fs |
| THYM | TCGA-YT-A95G-01 | exon_skip_287046 | 17716682 | 17716793 | 17716695 | 17716695 | Frame_Shift_Del | G | - | p.P1097fs |
| PCPG | TCGA-QR-A70R-01 | exon_skip_287056 | 17720570 | 17720771 | 17720609 | 17720609 | Frame_Shift_Del | G | - | p.H553fs |
| LIHC | TCGA-KR-A7K7-01 | exon_skip_287066 | 17723404 | 17723835 | 17723609 | 17723613 | Frame_Shift_Del | TGGAG | - | p.135_137del |
| LIHC | TCGA-KR-A7K7-01 | exon_skip_287066 | 17723404 | 17723835 | 17723609 | 17723613 | Frame_Shift_Del | TGGAG | - | p.TP135fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_287068 | 17726832 | 17726921 | 17726876 | 17726876 | Frame_Shift_Del | G | - | p.P46fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_287059 | 17720862 | 17720905 | 17720902 | 17720902 | Nonsense_Mutation | C | A | p.E470* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_287059 | |
| Skipped exon start: 17720862 | |
| Skipped exon end: 17720905 | |
| Mutation start: 17720902 | |
| Mutation end: 17720902 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E470* | |
exon_skip_113241_PAAD_TCGA-IB-7651-01.png | |
exon_skip_115380_PAAD_TCGA-IB-7651-01.png | |
exon_skip_124564_PAAD_TCGA-IB-7651-01.png | |
exon_skip_135806_PAAD_TCGA-IB-7651-01.png | |
exon_skip_139341_PAAD_TCGA-IB-7651-01.png | |
exon_skip_153733_PAAD_TCGA-IB-7651-01.png | |
exon_skip_155805_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18053_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18056_PAAD_TCGA-IB-7651-01.png | |
exon_skip_23067_PAAD_TCGA-IB-7651-01.png | |
exon_skip_287059_PAAD_TCGA-IB-7651-01.png | |
exon_skip_294631_PAAD_TCGA-IB-7651-01.png | |
exon_skip_298512_PAAD_TCGA-IB-7651-01.png | |
exon_skip_306900_PAAD_TCGA-IB-7651-01.png | |
exon_skip_307723_PAAD_TCGA-IB-7651-01.png | |
exon_skip_315960_PAAD_TCGA-IB-7651-01.png | |
exon_skip_324675_PAAD_TCGA-IB-7651-01.png | |
exon_skip_330351_PAAD_TCGA-IB-7651-01.png | |
exon_skip_334330_PAAD_TCGA-IB-7651-01.png | |
exon_skip_341784_PAAD_TCGA-IB-7651-01.png | |
exon_skip_343314_PAAD_TCGA-IB-7651-01.png | |
exon_skip_348329_PAAD_TCGA-IB-7651-01.png | |
exon_skip_354232_PAAD_TCGA-IB-7651-01.png | |
exon_skip_370626_PAAD_TCGA-IB-7651-01.png | |
exon_skip_377740_PAAD_TCGA-IB-7651-01.png | |
exon_skip_385032_PAAD_TCGA-IB-7651-01.png | |
exon_skip_390031_PAAD_TCGA-IB-7651-01.png | |
exon_skip_422548_PAAD_TCGA-IB-7651-01.png | |
exon_skip_424536_PAAD_TCGA-IB-7651-01.png | |
exon_skip_431753_PAAD_TCGA-IB-7651-01.png | |
exon_skip_432982_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435489_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435729_PAAD_TCGA-IB-7651-01.png | |
exon_skip_441705_PAAD_TCGA-IB-7651-01.png | |
exon_skip_448879_PAAD_TCGA-IB-7651-01.png | |
exon_skip_468347_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494000_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494029_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499410_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499695_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499697_PAAD_TCGA-IB-7651-01.png | |
exon_skip_79905_PAAD_TCGA-IB-7651-01.png | |
exon_skip_80096_PAAD_TCGA-IB-7651-01.png | |
exon_skip_95924_PAAD_TCGA-IB-7651-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| CW2_LARGE_INTESTINE | 17720570 | 17720771 | 17720651 | 17720651 | Frame_Shift_Del | C | - | p.A509fs |
| OVSAHO_OVARY | 17723404 | 17723835 | 17723464 | 17723465 | In_Frame_Ins | - | TGGGGC | p.153_154insPA |
| KYSE70_OESOPHAGUS | 17723404 | 17723835 | 17723464 | 17723465 | In_Frame_Ins | - | TGGGGC | p.153_154insPA |
| KPNYN_AUTONOMIC_GANGLIA | 17723404 | 17723835 | 17723464 | 17723465 | In_Frame_Ins | - | TGGGGC | p.153_154insPA |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17723404 | 17723835 | 17723464 | 17723465 | In_Frame_Ins | - | TGGGGC | p.153_154insPA |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17716682 | 17716793 | 17716721 | 17716721 | Missense_Mutation | G | A | p.R1059C |
| HEC6_ENDOMETRIUM | 17716682 | 17716793 | 17716790 | 17716790 | Missense_Mutation | A | G | p.F1036L |
| HCC1195_LUNG | 17716883 | 17717083 | 17716951 | 17716951 | Missense_Mutation | G | A | p.R1012C |
| SNU1040_LARGE_INTESTINE | 17716883 | 17717083 | 17716963 | 17716963 | Missense_Mutation | C | T | p.A1008T |
| HEC1A_ENDOMETRIUM | 17716883 | 17717083 | 17716980 | 17716980 | Missense_Mutation | C | T | p.S1002N |
| HEC1_ENDOMETRIUM | 17716883 | 17717083 | 17716980 | 17716980 | Missense_Mutation | C | T | p.S1002N |
| HEC1B_ENDOMETRIUM | 17716883 | 17717083 | 17716980 | 17716980 | Missense_Mutation | C | T | p.S1002N |
| SNUC2A_LARGE_INTESTINE | 17716883 | 17717083 | 17717080 | 17717080 | Missense_Mutation | C | T | p.V969M |
| HEC108_ENDOMETRIUM | 17720570 | 17720771 | 17720579 | 17720579 | Missense_Mutation | C | T | p.E533K |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17720570 | 17720771 | 17720648 | 17720648 | Missense_Mutation | G | A | p.R510W |
| MFE319_ENDOMETRIUM | 17720570 | 17720771 | 17720656 | 17720656 | Missense_Mutation | A | G | p.L507P |
| HEC6_ENDOMETRIUM | 17720570 | 17720771 | 17720717 | 17720717 | Missense_Mutation | G | A | p.R487C |
| TOV21G_OVARY | 17720570 | 17720771 | 17720744 | 17720744 | Missense_Mutation | G | A | p.H478Y |
| NUGC4_STOMACH | 17720570 | 17720771 | 17720759 | 17720759 | Missense_Mutation | G | T | p.Q473K |
| MFE319_ENDOMETRIUM | 17721574 | 17721688 | 17721648 | 17721648 | Missense_Mutation | A | G | p.I370T |
| HEMCSS_BONE | 17722327 | 17722548 | 17722372 | 17722372 | Missense_Mutation | G | C | p.D341E |
| EFO27_OVARY | 17722327 | 17722548 | 17722476 | 17722476 | Missense_Mutation | G | A | p.R307W |
| J82_MATCHED_NORMAL_TISSUE | 17723404 | 17723835 | 17723521 | 17723521 | Missense_Mutation | T | G | p.T136P |
| CP66MEL_SKIN | 17723404 | 17723835 | 17723554 | 17723554 | Missense_Mutation | C | T | p.E125K |
| RXF393_KIDNEY | 17723404 | 17723835 | 17723640 | 17723640 | Missense_Mutation | G | T | p.P96H |
| LNCAPCLONEFGC_PROSTATE | 17723404 | 17723835 | 17723722 | 17723722 | Missense_Mutation | G | T | p.P69T |
| LNCAPCLONEFGC_PROSTATE | 17723404 | 17723835 | 17723742 | 17723742 | Missense_Mutation | G | A | p.A62V |
| CP66MEL_SKIN | 17723404 | 17723835 | 17723797 | 17723797 | Missense_Mutation | G | A | p.P44S |
| FTC133_THYROID | 17721574 | 17721688 | 17721687 | 17721687 | Splice_Site | A | G | p.L357P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SREBF1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SREBF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SREBF1 |
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RelatedDrugs for SREBF1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SREBF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SREBF1 | C0011853 | Diabetes Mellitus, Experimental | 2 | CTD_human |
| SREBF1 | C0400966 | Non-alcoholic Fatty Liver Disease | 2 | CTD_human |
| SREBF1 | C2239176 | Liver carcinoma | 2 | CTD_human |
| SREBF1 | C0015695 | Fatty Liver | 1 | CTD_human |
| SREBF1 | C0021655 | Insulin Resistance | 1 | CTD_human |
| SREBF1 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| SREBF1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| SREBF1 | C0028754 | Obesity | 1 | CTD_human |
| SREBF1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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