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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for CHGB |
Gene summary |
Gene information | Gene symbol | CHGB | Gene ID | 1114 |
Gene name | chromogranin B | |
Synonyms | SCG1 | |
Cytomap | 20p12.3 | |
Type of gene | protein-coding | |
Description | secretogranin-1cgBsecretogranin Bsecretogranin IsgI | |
Modification date | 20180523 | |
UniProtAcc | P05060 | |
Context | PubMed: CHGB [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 |
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Exon skipping events across known transcript of Ensembl for CHGB 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 CHGB |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CHGB |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_348869 | 20 | 5892175:5892328:5895263:5895359:5896971:5897018 | 5895263:5895359 | ENSG00000089199.5 | ENST00000455042.1 |
exon_skip_348908 | 20 | 5897471:5897565:5902980:5904746:5905617:5905719 | 5902980:5904746 | ENSG00000089199.5 | ENST00000378961.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHGB |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_348869 | 20 | 5892175:5892328:5895263:5895359:5896971:5897018 | 5895263:5895359 | ENSG00000089199.5 | ENST00000455042.1 |
exon_skip_348908 | 20 | 5897471:5897565:5902980:5904746:5905617:5905719 | 5902980:5904746 | ENSG00000089199.5 | ENST00000378961.4 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CHGB |
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 |
ENST00000378961 | 5902980 | 5904746 | Frame-shift |
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 |
ENST00000378961 | 5902980 | 5904746 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CHGB |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
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 |
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 CHGB |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- 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 |
LIHC | TCGA-DD-A3A0-01 | exon_skip_348908 | 5902981 | 5904746 | 5903107 | 5903107 | Frame_Shift_Del | C | - | p.A106fs |
STAD | TCGA-D7-A4YV-01 | exon_skip_348908 | 5902981 | 5904746 | 5903414 | 5903414 | Frame_Shift_Del | A | - | p.I208fs |
SKCM | TCGA-D3-A8GO-06 | exon_skip_348908 | 5902981 | 5904746 | 5903786 | 5903786 | Frame_Shift_Del | C | - | p.Y332fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_348908 | 5902981 | 5904746 | 5904345 | 5904345 | Frame_Shift_Del | G | - | p.G519fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_348908 | 5902981 | 5904746 | 5904345 | 5904345 | Frame_Shift_Del | G | - | p.L518fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_348908 | 5902981 | 5904746 | 5904700 | 5904700 | Frame_Shift_Del | A | - | p.E637fs |
STAD | TCGA-D7-A4YY-01 | exon_skip_348908 | 5902981 | 5904746 | 5903413 | 5903414 | Frame_Shift_Ins | - | A | p.I208fs |
STAD | TCGA-D7-A4YY-01 | exon_skip_348908 | 5902981 | 5904746 | 5903414 | 5903415 | Frame_Shift_Ins | - | A | p.I208fs |
LIHC | TCGA-DD-AACB-01 | exon_skip_348908 | 5902981 | 5904746 | 5903753 | 5903754 | Frame_Shift_Ins | - | G | p.L321fs |
STAD | TCGA-CG-4306-01 | exon_skip_348908 | 5902981 | 5904746 | 5904506 | 5904507 | Frame_Shift_Ins | - | A | p.E572fs |
STAD | TCGA-CG-4306-01 | exon_skip_348908 | 5902981 | 5904746 | 5904507 | 5904508 | Frame_Shift_Ins | - | A | p.E572fs |
SKCM | TCGA-D3-A5GR-06 | exon_skip_348908 | 5902981 | 5904746 | 5903202 | 5903202 | Nonsense_Mutation | C | T | p.Q138* |
LUSC | TCGA-21-5787-01 | exon_skip_348908 | 5902981 | 5904746 | 5903358 | 5903358 | Nonsense_Mutation | G | T | p.E190* |
LUSC | TCGA-18-4083-01 | exon_skip_348908 | 5902981 | 5904746 | 5903529 | 5903529 | Nonsense_Mutation | G | T | p.E247* |
SKCM | TCGA-DA-A1I8-06 | exon_skip_348908 | 5902981 | 5904746 | 5903556 | 5903556 | Nonsense_Mutation | C | T | p.Q256* |
SKCM | TCGA-DA-A1I8-06 | exon_skip_348908 | 5902981 | 5904746 | 5903556 | 5903556 | Nonsense_Mutation | C | T | p.Q256X |
SKCM | TCGA-EE-A3JB-06 | exon_skip_348908 | 5902981 | 5904746 | 5903562 | 5903562 | Nonsense_Mutation | C | T | p.R258* |
SKCM | TCGA-EE-A3JB-06 | exon_skip_348908 | 5902981 | 5904746 | 5903562 | 5903562 | Nonsense_Mutation | C | T | p.R258X |
BRCA | TCGA-BH-A0H6-01 | exon_skip_348908 | 5902981 | 5904746 | 5903619 | 5903619 | Nonsense_Mutation | C | T | p.R277* |
GBM | TCGA-06-0184-01 | exon_skip_348908 | 5902981 | 5904746 | 5903619 | 5903619 | Nonsense_Mutation | C | T | p.R277* |
LUAD | TCGA-73-4659-01 | exon_skip_348908 | 5902981 | 5904746 | 5903619 | 5903619 | Nonsense_Mutation | C | T | p.R277* |
CHOL | TCGA-W5-AA2X-01 | exon_skip_348908 | 5902981 | 5904746 | 5903817 | 5903817 | Nonsense_Mutation | G | T | p.E343X |
LUAD | TCGA-17-Z044-01 | exon_skip_348908 | 5902981 | 5904746 | 5903866 | 5903866 | Nonsense_Mutation | G | A | p.W359* |
STAD | TCGA-CG-5726-01 | exon_skip_348908 | 5902981 | 5904746 | 5903916 | 5903916 | Nonsense_Mutation | C | T | p.Q376* |
STAD | TCGA-CG-5726-01 | exon_skip_348908 | 5902981 | 5904746 | 5903916 | 5903916 | Nonsense_Mutation | C | T | p.Q376X |
SKCM | TCGA-D3-A2JF-06 | exon_skip_348908 | 5902981 | 5904746 | 5904144 | 5904144 | Nonsense_Mutation | C | T | p.Q452* |
SKCM | TCGA-D3-A2JF-06 | exon_skip_348908 | 5902981 | 5904746 | 5904144 | 5904144 | Nonsense_Mutation | C | T | p.Q452X |
UCEC | TCGA-AX-A0J0-01 | exon_skip_348908 | 5902981 | 5904746 | 5904270 | 5904270 | Nonsense_Mutation | G | T | p.E494* |
SKCM | TCGA-EE-A2A1-06 | exon_skip_348908 | 5902981 | 5904746 | 5904294 | 5904294 | Nonsense_Mutation | C | T | p.Q502* |
SKCM | TCGA-EE-A2A1-06 | exon_skip_348908 | 5902981 | 5904746 | 5904294 | 5904294 | Nonsense_Mutation | C | T | p.Q502X |
ESCA | TCGA-VR-A8EO-01 | exon_skip_348908 | 5902981 | 5904746 | 5904465 | 5904465 | Nonsense_Mutation | G | T | p.E559* |
ESCA | TCGA-VR-A8EO-01 | exon_skip_348908 | 5902981 | 5904746 | 5904465 | 5904465 | Nonsense_Mutation | G | T | p.E559X |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- 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 |
MHHES1_BONE | 5902981 | 5904746 | 5903049 | 5903050 | Frame_Shift_Del | AG | - | p.R87fs |
SNU324_PANCREAS | 5902981 | 5904746 | 5903414 | 5903414 | Frame_Shift_Del | A | - | p.I208fs |
SNU1_STOMACH | 5902981 | 5904746 | 5903414 | 5903414 | Frame_Shift_Del | A | - | p.I208fs |
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 5902981 | 5904746 | 5903414 | 5903414 | Frame_Shift_Del | A | - | p.I208fs |
IALM_LUNG | 5902981 | 5904746 | 5903537 | 5903537 | Frame_Shift_Del | C | - | p.H249fs |
EN_ENDOMETRIUM | 5902981 | 5904746 | 5903559 | 5903559 | Frame_Shift_Del | C | - | p.P257fs |
SNU620_STOMACH | 5902981 | 5904746 | 5903937 | 5903939 | In_Frame_Del | GAG | - | p.E384del |
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5902981 | 5904746 | 5903056 | 5903056 | Missense_Mutation | C | A | p.P89Q |
WM88_SKIN | 5902981 | 5904746 | 5903167 | 5903167 | Missense_Mutation | G | A | p.G126E |
HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5902981 | 5904746 | 5903182 | 5903182 | Missense_Mutation | G | A | p.R131Q |
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5902981 | 5904746 | 5903182 | 5903182 | Missense_Mutation | G | T | p.R131L |
HCC2814_LUNG | 5902981 | 5904746 | 5903210 | 5903210 | Missense_Mutation | C | A | p.S140R |
COLO684_ENDOMETRIUM | 5902981 | 5904746 | 5903254 | 5903254 | Missense_Mutation | G | A | p.R155H |
SKMEL5_SKIN | 5902981 | 5904746 | 5903317 | 5903317 | Missense_Mutation | G | A | p.G176E |
OC316_OVARY | 5902981 | 5904746 | 5903364 | 5903364 | Missense_Mutation | G | A | p.G192R |
OC314_OVARY | 5902981 | 5904746 | 5903364 | 5903364 | Missense_Mutation | G | A | p.G192R |
COLO684_ENDOMETRIUM | 5902981 | 5904746 | 5903401 | 5903401 | Missense_Mutation | A | G | p.Q204R |
HEC251_ENDOMETRIUM | 5902981 | 5904746 | 5903417 | 5903417 | Missense_Mutation | A | C | p.K209N |
HS578T_BREAST | 5902981 | 5904746 | 5903458 | 5903458 | Missense_Mutation | G | C | p.G223A |
HEC50B_ENDOMETRIUM | 5902981 | 5904746 | 5903463 | 5903463 | Missense_Mutation | T | C | p.S225P |
NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5902981 | 5904746 | 5903463 | 5903463 | Missense_Mutation | T | C | p.S225P |
SBC1_LUNG | 5902981 | 5904746 | 5903508 | 5903508 | Missense_Mutation | G | C | p.G240R |
ESS1_ENDOMETRIUM | 5902981 | 5904746 | 5903670 | 5903670 | Missense_Mutation | T | A | p.S294T |
HCC2450_LUNG | 5902981 | 5904746 | 5903673 | 5903673 | Missense_Mutation | C | G | p.Q295E |
HUH7_LIVER | 5902981 | 5904746 | 5903724 | 5903724 | Missense_Mutation | G | A | p.E312K |
NCIH2170_LUNG | 5902981 | 5904746 | 5903884 | 5903884 | Missense_Mutation | G | A | p.R365K |
TUHR14TKB_KIDNEY | 5902981 | 5904746 | 5903918 | 5903918 | Missense_Mutation | G | C | p.Q376H |
TASK1_CENTRAL_NERVOUS_SYSTEM | 5902981 | 5904746 | 5903918 | 5903918 | Missense_Mutation | G | C | p.Q376H |
NCIH513_PLEURA | 5902981 | 5904746 | 5903974 | 5903974 | Missense_Mutation | A | G | p.D395G |
NCIBL128_MATCHED_NORMAL_TISSUE | 5902981 | 5904746 | 5904107 | 5904107 | Missense_Mutation | G | T | p.R439S |
ISTMEL1_SKIN | 5902981 | 5904746 | 5904168 | 5904168 | Missense_Mutation | C | T | p.P460S |
CH157MN_CENTRAL_NERVOUS_SYSTEM | 5902981 | 5904746 | 5904187 | 5904187 | Missense_Mutation | A | G | p.E466G |
JHUEM7_ENDOMETRIUM | 5902981 | 5904746 | 5904196 | 5904196 | Missense_Mutation | G | T | p.R469I |
OVCAR8_OVARY | 5902981 | 5904746 | 5904261 | 5904261 | Missense_Mutation | G | C | p.D491H |
HEC108_ENDOMETRIUM | 5902981 | 5904746 | 5904265 | 5904265 | Missense_Mutation | C | T | p.T492I |
RCCFG2_KIDNEY | 5902981 | 5904746 | 5904346 | 5904346 | Missense_Mutation | G | T | p.G519V |
NCIH650_LUNG | 5902981 | 5904746 | 5904443 | 5904443 | Missense_Mutation | G | T | p.E551D |
SNU81_LARGE_INTESTINE | 5902981 | 5904746 | 5904470 | 5904470 | Missense_Mutation | G | T | p.K560N |
SARC9371_BONE | 5902981 | 5904746 | 5904504 | 5904504 | Missense_Mutation | G | A | p.E572K |
HCC1195_LUNG | 5902981 | 5904746 | 5904532 | 5904532 | Missense_Mutation | A | G | p.N581S |
CAL27_UPPER_AERODIGESTIVE_TRACT | 5902981 | 5904746 | 5904548 | 5904548 | Missense_Mutation | G | C | p.K586N |
SNU81_LARGE_INTESTINE | 5902981 | 5904746 | 5904635 | 5904635 | Missense_Mutation | G | T | p.K615N |
KM12_LARGE_INTESTINE | 5902981 | 5904746 | 5904692 | 5904692 | Missense_Mutation | G | T | p.Q634H |
HEC251_ENDOMETRIUM | 5902981 | 5904746 | 5904706 | 5904706 | Missense_Mutation | A | G | p.E639G |
NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5902981 | 5904746 | 5904722 | 5904722 | Missense_Mutation | C | A | p.D644E |
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5902981 | 5904746 | 5903181 | 5903181 | Nonsense_Mutation | C | T | p.R131* |
NCIH2030_LUNG | 5902981 | 5904746 | 5903206 | 5903206 | Nonsense_Mutation | G | A | p.W139* |
NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5902981 | 5904746 | 5903484 | 5903484 | Nonsense_Mutation | C | T | p.R232* |
ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5902981 | 5904746 | 5903866 | 5903866 | Nonsense_Mutation | G | A | p.W359* |
MM370_SKIN | 5902981 | 5904746 | 5904186 | 5904186 | Nonsense_Mutation | G | T | p.E466* |
MPP89_PLEURA | 5902981 | 5904746 | 5904535 | 5904535 | Nonsense_Mutation | G | A | p.W582* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHGB |
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 CHGB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHGB |
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RelatedDrugs for CHGB |
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 CHGB |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
CHGB | C0036341 | Schizophrenia | 3 | PSYGENET |
CHGB | C0221765 | Chronic schizophrenia | 1 | PSYGENET |