ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MAX

Gene summary

Gene information	Gene symbol	MAX
	Gene ID	4149
	Gene name	MYC associated factor X
	Synonyms	bHLHd4
	Cytomap	14q23.3
	Type of gene	protein-coding
	Description	protein maxclass D basic helix-loop-helix protein 4
	Modification date	20180523
	UniProtAcc	P61244
	Context	PubMed: MAX [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
MAX	GO:0000122	negative regulation of transcription by RNA polymerase II	8521822

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Exon skipping events across known transcript of Ensembl for MAX 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 MAX

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 MAX

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_113894	14	65543326:65543381:65544045:65544146:65544630:65544754	65544045:65544146	ENSG00000125952.14	ENST00000553928.1
exon_skip_113898	14	65543326:65543381:65544061:65544146:65544630:65544754	65544061:65544146	ENSG00000125952.14	ENST00000557277.1,ENST00000394606.2
exon_skip_113903	14	65543326:65543381:65544630:65544754:65560425:65560533	65544630:65544754	ENSG00000125952.14	ENST00000358402.4,ENST00000556892.1,ENST00000358664.4
exon_skip_113905	14	65544102:65544146:65544280:65544361:65544630:65544754	65544280:65544361	ENSG00000125952.14	ENST00000557746.1
exon_skip_113906	14	65544630:65544754:65560425:65560533:65568263:65568290	65560425:65560533	ENSG00000125952.14	ENST00000284165.6,ENST00000557277.1,ENST00000556979.1,ENST00000553928.1,ENST00000394606.2,ENST00000553951.1,ENST00000358664.4
exon_skip_113908	14	65560425:65560533:65568263:65568290:65569021:65569057	65568263:65568290	ENSG00000125952.14	ENST00000284165.6,ENST00000556979.1,ENST00000553928.1,ENST00000556702.1,ENST00000394606.2,ENST00000246163.2,ENST00000358664.4
exon_skip_113909	14	65560425:65560533:65568263:65568290:65569226:65569408	65568263:65568290	ENSG00000125952.14	ENST00000557277.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MAX

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_113894	14	65543326:65543381:65544045:65544146:65544630:65544754	65544045:65544146	ENSG00000125952.14	ENST00000553928.1
exon_skip_113898	14	65543326:65543381:65544061:65544146:65544630:65544754	65544061:65544146	ENSG00000125952.14	ENST00000394606.2,ENST00000557277.1
exon_skip_113903	14	65543326:65543381:65544630:65544754:65560425:65560533	65544630:65544754	ENSG00000125952.14	ENST00000358402.4,ENST00000358664.4,ENST00000556892.1
exon_skip_113905	14	65544102:65544146:65544280:65544361:65544630:65544754	65544280:65544361	ENSG00000125952.14	ENST00000557746.1
exon_skip_113906	14	65544630:65544754:65560425:65560533:65568263:65568290	65560425:65560533	ENSG00000125952.14	ENST00000394606.2,ENST00000284165.6,ENST00000358664.4,ENST00000553928.1,ENST00000557277.1,ENST00000553951.1,ENST00000556979.1
exon_skip_113908	14	65560425:65560533:65568263:65568290:65569021:65569057	65568263:65568290	ENSG00000125952.14	ENST00000394606.2,ENST00000284165.6,ENST00000358664.4,ENST00000553928.1,ENST00000556979.1,ENST00000246163.2,ENST00000556702.1
exon_skip_113909	14	65560425:65560533:65568263:65568290:65569226:65569408	65568263:65568290	ENSG00000125952.14	ENST00000557277.1

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 MAX

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
ENST00000358664	65544630	65544754	Frame-shift
ENST00000358664	65560425	65560533	In-frame
ENST00000358664	65568263	65568290	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
ENST00000358664	65544630	65544754	Frame-shift
ENST00000358664	65560425	65560533	In-frame
ENST00000358664	65568263	65568290	In-frame

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

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
ENST00000358664	1563	160	65560425	65560533	195	302	21	57

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
ENST00000358664	1563	160	65560425	65560533	195	302	21	57

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 MAX

- 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.

MAX_KIRC_exon_skip_113903_psi_boxplot.png
boxplot

MAX_LIHC_exon_skip_113894_psi_boxplot.png
boxplot

MAX_LIHC_exon_skip_113898_psi_boxplot.png
boxplot

MAX_LIHC_exon_skip_113903_psi_boxplot.png
boxplot

MAX_LUAD_exon_skip_113903_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-G3-A3CJ-01	exon_skip_113898 exon_skip_113894	65544046	65544146	65544144	65544144	Frame_Shift_Del	C	-	p.G8fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_113898 exon_skip_113894	65544062	65544146	65544144	65544144	Frame_Shift_Del	C	-	p.G8fs
LIHC	TCGA-DD-A1EG-01	exon_skip_113903	65544631	65544754	65544693	65544693	Frame_Shift_Del	T	-	p.N78fs
KIRC	TCGA-B0-5712-01	exon_skip_113903	65544631	65544754	65544727	65544727	Frame_Shift_Del	C	-	p.A67fs
KIRC	TCGA-G6-A8L6-01	exon_skip_113903	65544631	65544754	65544736	65544742	Frame_Shift_Del	GGATTTG	-	p.62_64del
KIRC	TCGA-CZ-5463-01	exon_skip_113906	65560426	65560533	65560495	65560495	Frame_Shift_Del	T	-	p.R35fs
LUAD	TCGA-75-6214-01	exon_skip_113903	65544631	65544754	65544682	65544682	Nonsense_Mutation	G	A	p.Q82*
LUAD	TCGA-J2-A4AG-01	exon_skip_113903	65544631	65544754	65544712	65544712	Nonsense_Mutation	G	A	p.Q72*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-75-6214-01
	Cancer type: LUAD
	ESID: exon_skip_113903
	Skipped exon start: 65544631
	Skipped exon end: 65544754
	Mutation start: 65544682
	Mutation end: 65544682
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.Q82*
exon_skip_113903_LUAD_TCGA-75-6214-01.png
exon_skip_32368_LUAD_TCGA-75-6214-01.png
exon_skip_32369_LUAD_TCGA-75-6214-01.png
exon_skip_347441_LUAD_TCGA-75-6214-01.png
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_113894
	Skipped exon start: 65544062
	Skipped exon end: 65544146
	Mutation start: 65544144
	Mutation end: 65544144
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G8fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_113894
	Skipped exon start: 65544046
	Skipped exon end: 65544146
	Mutation start: 65544144
	Mutation end: 65544144
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G8fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_315285_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421130_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421131_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421134_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426530_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_430528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_444593_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_447600_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_45824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483502_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504288_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504556_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506095_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506097_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507316_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507513_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_55516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57597_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57603_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5818_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5861_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_58894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_59476_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_71100_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_84528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_94866_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_98550_LIHC_TCGA-G3-A3CJ-01.png
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_113894
	Skipped exon start: 65544062
	Skipped exon end: 65544146
	Mutation start: 65544144
	Mutation end: 65544144
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G8fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_113894
	Skipped exon start: 65544046
	Skipped exon end: 65544146
	Mutation start: 65544144
	Mutation end: 65544144
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G8fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
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- 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
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65544631	65544754	65544646	65544646	Missense_Mutation	G	C	p.L94V
HEC6_ENDOMETRIUM	65544631	65544754	65544667	65544667	Missense_Mutation	C	T	p.D87N
SNU1066_UPPER_AERODIGESTIVE_TRACT	65544631	65544754	65544698	65544698	Missense_Mutation	C	A	p.R76S
KPNSI9S_AUTONOMIC_GANGLIA	65544631	65544754	65544747	65544747	Missense_Mutation	C	T	p.R60Q
CAL51_BREAST	65544631	65544754	65544747	65544747	Missense_Mutation	C	T	p.R60Q
HCC2998_LARGE_INTESTINE	65560426	65560533	65560440	65560440	Missense_Mutation	G	A	p.L53F
RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65560426	65560533	65560487	65560487	Missense_Mutation	T	C	p.D37G
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65560426	65560533	65560509	65560509	Missense_Mutation	C	T	p.A30T
A2780_OVARY	65560426	65560533	65560514	65560514	Missense_Mutation	T	C	p.H28R
NCIH358_LUNG	65568264	65568290	65568285	65568285	Missense_Mutation	C	A	p.E14D
NCIH727_LUNG	65544631	65544754	65544703	65544703	Nonsense_Mutation	G	A	p.R75*
RERFLCAD1_LUNG	65560426	65560533	65560500	65560500	Nonsense_Mutation	G	A	p.R33*

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

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 MAX

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

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RelatedDrugs for MAX

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 MAX

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MAX	C0031511	Pheochromocytoma	1	CTD_human

	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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