ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MCCC2

Gene summary

Gene information	Gene symbol	MCCC2
	Gene ID	64087
	Gene name	methylcrotonoyl-CoA carboxylase 2
	Synonyms	MCCB
	Cytomap	5q13.2
	Type of gene	protein-coding
	Description	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial3-methylcrotonyl-CoA carboxylase 23-methylcrotonyl-CoA carboxylase non-biotin-containing subunit3-methylcrotonyl-CoA:carbon dioxide ligase subunit betaMCCase subunit betabiotin carboxylasemeth
	Modification date	20180523
	UniProtAcc	Q9HCC0
	Context	PubMed: MCCC2 [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 MCCC2 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 MCCC2

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 MCCC2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_435446	5	70883194:70883381:70888752:70888819:70892106:70892191	70888752:70888819	ENSG00000131844.11	ENST00000509358.2,ENST00000323375.8,ENST00000340941.6
exon_skip_435449	5	70888752:70888819:70892106:70892191:70895485:70895587	70892106:70892191	ENSG00000131844.11	ENST00000512218.2,ENST00000509358.2,ENST00000323375.8,ENST00000340941.6,ENST00000507169.1
exon_skip_435451	5	70892106:70892191:70895485:70895587:70898332:70898460	70895485:70895587	ENSG00000131844.11	ENST00000512218.2,ENST00000509358.2,ENST00000505787.3,ENST00000323375.8,ENST00000340941.6,ENST00000507169.1
exon_skip_435452	5	70895485:70895587:70898332:70898460:70900182:70900295	70898332:70898460	ENSG00000131844.11	ENST00000512218.2,ENST00000509358.2,ENST00000505787.3,ENST00000323375.8,ENST00000340941.6
exon_skip_435455	5	70898335:70898460:70900182:70900295:70927947:70928012	70900182:70900295	ENSG00000131844.11	ENST00000512218.2,ENST00000323375.8
exon_skip_435457	5	70900206:70900295:70922466:70922580:70927947:70928012	70922466:70922580	ENSG00000131844.11	ENST00000510895.2,ENST00000509358.2,ENST00000505787.3,ENST00000340941.6
exon_skip_435462	5	70927947:70928012:70930769:70930869:70930977:70931073	70930769:70930869	ENSG00000131844.11	ENST00000505435.3,ENST00000509539.2,ENST00000510895.2,ENST00000512218.2,ENST00000509358.2,ENST00000323375.8,ENST00000340941.6
exon_skip_435468	5	70930977:70931073:70931930:70931994:70939645:70939722	70931930:70931994	ENSG00000131844.11	ENST00000509539.2
exon_skip_435471	5	70930977:70931073:70936829:70936902:70939645:70939722	70936829:70936902	ENSG00000131844.11	ENST00000323375.8,ENST00000340941.6
exon_skip_435472	5	70930977:70931073:70936829:70936910:70939597:70939722	70936829:70936910	ENSG00000131844.11	ENST00000512218.2
exon_skip_435489	5	70936829:70936910:70939597:70939722:70942037:70942104	70939597:70939722	ENSG00000131844.11	ENST00000512218.2
exon_skip_435491	5	70939645:70939722:70942037:70942104:70944923:70945080	70942037:70942104	ENSG00000131844.11	ENST00000509539.2,ENST00000512218.2,ENST00000323375.8,ENST00000340941.6
exon_skip_435497	5	70945895:70946010:70948495:70948581:70952569:70953039	70948495:70948581	ENSG00000131844.11	ENST00000512218.2,ENST00000323375.8,ENST00000340941.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MCCC2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_435446	5	70883194:70883381:70888752:70888819:70892106:70892191	70888752:70888819	ENSG00000131844.11	ENST00000340941.6,ENST00000509358.2,ENST00000323375.8
exon_skip_435449	5	70888752:70888819:70892106:70892191:70895485:70895587	70892106:70892191	ENSG00000131844.11	ENST00000512218.2,ENST00000340941.6,ENST00000509358.2,ENST00000323375.8,ENST00000507169.1
exon_skip_435451	5	70892106:70892191:70895485:70895587:70898332:70898460	70895485:70895587	ENSG00000131844.11	ENST00000512218.2,ENST00000340941.6,ENST00000509358.2,ENST00000323375.8,ENST00000507169.1,ENST00000505787.3
exon_skip_435452	5	70895485:70895587:70898332:70898460:70900182:70900295	70898332:70898460	ENSG00000131844.11	ENST00000512218.2,ENST00000340941.6,ENST00000509358.2,ENST00000323375.8,ENST00000505787.3
exon_skip_435455	5	70898335:70898460:70900182:70900295:70927947:70928012	70900182:70900295	ENSG00000131844.11	ENST00000512218.2,ENST00000323375.8
exon_skip_435457	5	70900206:70900295:70922466:70922580:70927947:70928012	70922466:70922580	ENSG00000131844.11	ENST00000340941.6,ENST00000509358.2,ENST00000505787.3,ENST00000510895.2
exon_skip_435462	5	70927947:70928012:70930769:70930869:70930977:70931073	70930769:70930869	ENSG00000131844.11	ENST00000512218.2,ENST00000340941.6,ENST00000509358.2,ENST00000323375.8,ENST00000510895.2,ENST00000505435.3,ENST00000509539.2
exon_skip_435468	5	70930977:70931073:70931930:70931994:70939645:70939722	70931930:70931994	ENSG00000131844.11	ENST00000509539.2
exon_skip_435471	5	70930977:70931073:70936829:70936902:70939645:70939722	70936829:70936902	ENSG00000131844.11	ENST00000340941.6,ENST00000323375.8
exon_skip_435472	5	70930977:70931073:70936829:70936910:70939597:70939722	70936829:70936910	ENSG00000131844.11	ENST00000512218.2
exon_skip_435489	5	70936829:70936910:70939597:70939722:70942037:70942104	70939597:70939722	ENSG00000131844.11	ENST00000512218.2
exon_skip_435491	5	70939645:70939722:70942037:70942104:70944923:70945080	70942037:70942104	ENSG00000131844.11	ENST00000512218.2,ENST00000340941.6,ENST00000323375.8,ENST00000509539.2
exon_skip_435497	5	70945895:70946010:70948495:70948581:70952569:70953039	70948495:70948581	ENSG00000131844.11	ENST00000512218.2,ENST00000340941.6,ENST00000323375.8

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 MCCC2

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

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

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Infer the effects of exon skipping event on protein functional features for MCCC2

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 MCCC2

- 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.

MCCC2_SKCM_exon_skip_435457_psi_boxplot.png
boxplot

- 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-A39Y-01	exon_skip_435452	70898333	70898460	70898400	70898400	Frame_Shift_Del	A	-	p.K152fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_435452	70898333	70898460	70898434	70898434	Frame_Shift_Del	A	-	p.Q162fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_435452	70898333	70898460	70898444	70898444	Frame_Shift_Del	C	-	p.L165fs
LIHC	TCGA-DD-A3A0-01	exon_skip_435457	70922467	70922580	70922550	70922550	Frame_Shift_Del	G	-	p.Q236fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_435457	70922467	70922580	70922572	70922572	Frame_Shift_Del	C	-	p.P245fs
LIHC	TCGA-DD-A39Y-01	exon_skip_435489	70939598	70939722	70939702	70939702	Frame_Shift_Del	T	-	p.F377fs
COAD	TCGA-D5-6930-01	exon_skip_435452	70898333	70898460	70898399	70898400	Frame_Shift_Ins	-	A	p.V150fs
BLCA	TCGA-DK-A6AW-01	exon_skip_435455	70900183	70900295	70900209	70900209	Nonsense_Mutation	C	T	p.R180*
SKCM	TCGA-GN-A26C-01	exon_skip_435457	70922467	70922580	70922545	70922545	Nonsense_Mutation	A	T	p.K235*
COAD	TCGA-D5-6930-01	exon_skip_435489	70939598	70939722	70939654	70939654	Nonsense_Mutation	C	T	p.R361X
PAAD	TCGA-IB-7651-01	exon_skip_435489	70939598	70939722	70939654	70939654	Nonsense_Mutation	C	T	p.R361*
PAAD	TCGA-IB-7651-01	exon_skip_435489	70939598	70939722	70939654	70939654	Nonsense_Mutation	C	T	p.R361X
HNSC	TCGA-CV-7411-01	exon_skip_435497	70948496	70948581	70948526	70948526	Nonsense_Mutation	G	T	p.E507*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D5-6930-01
	Cancer type: COAD
	ESID: exon_skip_435452
	Skipped exon start: 70898333
	Skipped exon end: 70898460
	Mutation start: 70898399
	Mutation end: 70898400
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.V150fs
	Sample: TCGA-D5-6930-01
	Cancer type: COAD
	ESID: exon_skip_435489
	Skipped exon start: 70939598
	Skipped exon end: 70939722
	Mutation start: 70939654
	Mutation end: 70939654
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R361X
exon_skip_142268_COAD_TCGA-D5-6930-01.png
exon_skip_339351_COAD_TCGA-D5-6930-01.png
exon_skip_374468_COAD_TCGA-D5-6930-01.png
exon_skip_374469_COAD_TCGA-D5-6930-01.png
exon_skip_435489_COAD_TCGA-D5-6930-01.png
exon_skip_440412_COAD_TCGA-D5-6930-01.png
exon_skip_450406_COAD_TCGA-D5-6930-01.png
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_435489
	Skipped exon start: 70939598
	Skipped exon end: 70939722
	Mutation start: 70939654
	Mutation end: 70939654
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R361X
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_435489
	Skipped exon start: 70939598
	Skipped exon end: 70939722
	Mutation start: 70939654
	Mutation end: 70939654
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R361*
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
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_435452
	Skipped exon start: 70898333
	Skipped exon end: 70898460
	Mutation start: 70898400
	Mutation end: 70898400
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.K152fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_435489
	Skipped exon start: 70939598
	Skipped exon end: 70939722
	Mutation start: 70939702
	Mutation end: 70939702
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.F377fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png
exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png
exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png
exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png
exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135545_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135553_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135763_LIHC_TCGA-DD-A39Y-01.png
exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141945_LIHC_TCGA-DD-A39Y-01.png
exon_skip_143515_LIHC_TCGA-DD-A39Y-01.png
exon_skip_143728_LIHC_TCGA-DD-A39Y-01.png
exon_skip_14772_LIHC_TCGA-DD-A39Y-01.png
exon_skip_148319_LIHC_TCGA-DD-A39Y-01.png
exon_skip_148332_LIHC_TCGA-DD-A39Y-01.png
exon_skip_14897_LIHC_TCGA-DD-A39Y-01.png
exon_skip_150985_LIHC_TCGA-DD-A39Y-01.png
exon_skip_151979_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153387_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153494_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153786_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155021_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155962_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155964_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19897_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19898_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19902_LIHC_TCGA-DD-A39Y-01.png
exon_skip_20050_LIHC_TCGA-DD-A39Y-01.png
exon_skip_20053_LIHC_TCGA-DD-A39Y-01.png
exon_skip_21823_LIHC_TCGA-DD-A39Y-01.png
exon_skip_22411_LIHC_TCGA-DD-A39Y-01.png
exon_skip_22908_LIHC_TCGA-DD-A39Y-01.png
exon_skip_23470_LIHC_TCGA-DD-A39Y-01.png
exon_skip_24870_LIHC_TCGA-DD-A39Y-01.png
exon_skip_25336_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26461_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26958_LIHC_TCGA-DD-A39Y-01.png
exon_skip_27038_LIHC_TCGA-DD-A39Y-01.png
exon_skip_27415_LIHC_TCGA-DD-A39Y-01.png
exon_skip_283977_LIHC_TCGA-DD-A39Y-01.png
exon_skip_284046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_289275_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291218_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291361_LIHC_TCGA-DD-A39Y-01.png
exon_skip_292293_LIHC_TCGA-DD-A39Y-01.png
exon_skip_292562_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293040_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293052_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293118_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293546_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_294064_LIHC_TCGA-DD-A39Y-01.png
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	Sample: TCGA-GN-A26C-01
	Cancer type: SKCM
	ESID: exon_skip_435457
	Skipped exon start: 70922467
	Skipped exon end: 70922580
	Mutation start: 70922545
	Mutation end: 70922545
	Mutation type: Nonsense_Mutation
	Reference seq: A
	Mutation seq: T
	AAchange: p.K235*
exon_skip_435457_SKCM_TCGA-GN-A26C-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
DOV13_OVARY	70939598	70939722	70939716	70939716	Frame_Shift_Del	A	-	p.A381fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70892107	70892191	70892187	70892187	Missense_Mutation	C	G	p.P93A
HCC1438_LUNG	70898333	70898460	70898376	70898377	Missense_Mutation	GG	TT	p.G143F
HCC1438_LUNG	70898333	70898460	70898376	70898376	Missense_Mutation	G	T	p.G143C
HCC1438_LUNG	70898333	70898460	70898377	70898377	Missense_Mutation	G	T	p.G143V
HEC1A_ENDOMETRIUM	70898333	70898460	70898391	70898391	Missense_Mutation	G	A	p.V148M
HCC56_LARGE_INTESTINE	70939598	70939722	70939682	70939682	Missense_Mutation	T	C	p.V370A
FTC238_THYROID	70939598	70939722	70939693	70939693	Missense_Mutation	G	A	p.G374R
HCT116_LARGE_INTESTINE	70939598	70939722	70939693	70939693	Missense_Mutation	G	A	p.G374R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCCC2

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 MCCC2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCCC2

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RelatedDrugs for MCCC2

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
	Q9HCC0	DB00121	Biotin	Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial	small molecule	approved\|investigational\|nutraceutical

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RelatedDiseases for MCCC2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MCCC2	C1859499	3-methylcrotonyl CoA carboxylase 2 deficiency	5	CTD_human;UNIPROT

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for MCCC2

Exon skipping events across known transcript of Ensembl for MCCC2 from UCSC genome browser

Gene isoform structures and expression levels for MCCC2

Exon skipping events with PSIs in TCGA for MCCC2

Exon skipping events with PSIs in GTEx for MCCC2

Open reading frame (ORF) annotation in the exon skipping event for MCCC2

Infer the effects of exon skipping event on protein functional features for MCCC2

SNVs in the skipped exons for MCCC2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCCC2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCCC2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCCC2

RelatedDrugs for MCCC2

RelatedDiseases for MCCC2