ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MAMLD1

Gene summary

Gene information	Gene symbol	MAMLD1
	Gene ID	10046
	Gene name	mastermind like domain containing 1
	Synonyms	CG1\|CXorf6\|F18\|HYSP2
	Cytomap	Xq28
	Type of gene	protein-coding
	Description	mastermind-like domain-containing protein 1
	Modification date	20180519
	UniProtAcc	Q13495
	Context	PubMed: MAMLD1 [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 MAMLD1 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 MAMLD1

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 MAMLD1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_512604	X	149531685:149531797:149613719:149613878:149631037:149631112	149613719:149613878	ENSG00000013619.9	ENST00000370401.2
exon_skip_512605	X	149531685:149531797:149613719:149613878:149638016:149638254	149613719:149613878	ENSG00000013619.9	ENST00000432680.2
exon_skip_512607	X	149613719:149613878:149631037:149631112:149638016:149638137	149631037:149631112	ENSG00000013619.9	ENST00000262858.5,ENST00000370401.2,ENST00000358892.3
exon_skip_512612	X	149639693:149639762:149641951:149642074:149671543:149671787	149641951:149642074	ENSG00000013619.9	ENST00000262858.5,ENST00000370401.2,ENST00000426613.2
exon_skip_512614	X	149639693:149639762:149671543:149671787:149678231:149678316	149671543:149671787	ENSG00000013619.9	ENST00000455522.2
exon_skip_512615	X	149641951:149642074:149671543:149671787:149678231:149678316	149671543:149671787	ENSG00000013619.9	ENST00000262858.5,ENST00000370401.2,ENST00000426613.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MAMLD1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_512604	X	149531685:149531797:149613719:149613878:149631037:149631112	149613719:149613878	ENSG00000013619.9	ENST00000370401.2
exon_skip_512605	X	149531685:149531797:149613719:149613878:149638016:149638254	149613719:149613878	ENSG00000013619.9	ENST00000432680.2
exon_skip_512607	X	149613719:149613878:149631037:149631112:149638016:149638137	149631037:149631112	ENSG00000013619.9	ENST00000370401.2,ENST00000358892.3,ENST00000262858.5
exon_skip_512612	X	149639693:149639762:149641951:149642074:149671543:149671787	149641951:149642074	ENSG00000013619.9	ENST00000370401.2,ENST00000262858.5,ENST00000426613.2
exon_skip_512614	X	149639693:149639762:149671543:149671787:149678231:149678316	149671543:149671787	ENSG00000013619.9	ENST00000455522.2
exon_skip_512615	X	149641951:149642074:149671543:149671787:149678231:149678316	149671543:149671787	ENSG00000013619.9	ENST00000370401.2,ENST00000262858.5,ENST00000426613.2

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 MAMLD1

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
ENST00000370401	149613719	149613878	5CDS-5UTR
ENST00000262858	149671543	149671787	Frame-shift
ENST00000370401	149671543	149671787	Frame-shift
ENST00000262858	149631037	149631112	In-frame
ENST00000370401	149631037	149631112	In-frame
ENST00000262858	149641951	149642074	In-frame
ENST00000370401	149641951	149642074	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
ENST00000370401	149613719	149613878	5CDS-5UTR
ENST00000262858	149671543	149671787	Frame-shift
ENST00000370401	149671543	149671787	Frame-shift
ENST00000262858	149631037	149631112	In-frame
ENST00000370401	149631037	149631112	In-frame
ENST00000262858	149641951	149642074	In-frame
ENST00000370401	149641951	149642074	In-frame

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Infer the effects of exon skipping event on protein functional features for MAMLD1

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
ENST00000262858	4624	774	149631037	149631112	160	234	32	57
ENST00000370401	4871	774	149631037	149631112	407	481	32	57
ENST00000262858	4624	774	149641951	149642074	1981	2103	639	680
ENST00000370401	4871	774	149641951	149642074	2228	2350	639	680

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
ENST00000262858	4624	774	149631037	149631112	160	234	32	57
ENST00000370401	4871	774	149631037	149631112	407	481	32	57
ENST00000262858	4624	774	149641951	149642074	1981	2103	639	680
ENST00000370401	4871	774	149641951	149642074	2228	2350	639	680

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
Q13495	32	57	33	57	Alternative sequence	ID=VSP_037654;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q13495	32	57	33	57	Alternative sequence	ID=VSP_037654;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q13495	32	57	1	774	Chain	ID=PRO_0000089592;Note=Mastermind-like domain-containing protein 1
Q13495	32	57	1	774	Chain	ID=PRO_0000089592;Note=Mastermind-like domain-containing protein 1
Q13495	639	680	640	774	Alternative sequence	ID=VSP_037655;Note=In isoform 2. GCCHLFAWTSAASSVKPQHQHGNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSFAHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP->QEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPT
Q13495	639	680	640	774	Alternative sequence	ID=VSP_037655;Note=In isoform 2. GCCHLFAWTSAASSVKPQHQHGNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSFAHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP->QEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPT
Q13495	639	680	1	774	Chain	ID=PRO_0000089592;Note=Mastermind-like domain-containing protein 1
Q13495	639	680	1	774	Chain	ID=PRO_0000089592;Note=Mastermind-like domain-containing protein 1
Q13495	639	680	676	676	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q13495	639	680	676	676	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q13495	639	680	662	662	Natural variant	ID=VAR_020273;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17086185;Dbxref=dbSNP:rs2073043,PMID:17086185
Q13495	639	680	662	662	Natural variant	ID=VAR_020273;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17086185;Dbxref=dbSNP:rs2073043,PMID:17086185
Q13495	639	680	640	640	Sequence conflict	Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13495	639	680	640	640	Sequence conflict	Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q13495	32	57	33	57	Alternative sequence	ID=VSP_037654;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q13495	32	57	33	57	Alternative sequence	ID=VSP_037654;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q13495	32	57	1	774	Chain	ID=PRO_0000089592;Note=Mastermind-like domain-containing protein 1
Q13495	32	57	1	774	Chain	ID=PRO_0000089592;Note=Mastermind-like domain-containing protein 1
Q13495	639	680	640	774	Alternative sequence	ID=VSP_037655;Note=In isoform 2. GCCHLFAWTSAASSVKPQHQHGNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSFAHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP->QEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPT
Q13495	639	680	640	774	Alternative sequence	ID=VSP_037655;Note=In isoform 2. GCCHLFAWTSAASSVKPQHQHGNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSFAHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP->QEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPT
Q13495	639	680	1	774	Chain	ID=PRO_0000089592;Note=Mastermind-like domain-containing protein 1
Q13495	639	680	1	774	Chain	ID=PRO_0000089592;Note=Mastermind-like domain-containing protein 1
Q13495	639	680	676	676	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q13495	639	680	676	676	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q13495	639	680	662	662	Natural variant	ID=VAR_020273;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17086185;Dbxref=dbSNP:rs2073043,PMID:17086185
Q13495	639	680	662	662	Natural variant	ID=VAR_020273;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17086185;Dbxref=dbSNP:rs2073043,PMID:17086185
Q13495	639	680	640	640	Sequence conflict	Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13495	639	680	640	640	Sequence conflict	Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for MAMLD1

- 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-G3-A3CJ-01	exon_skip_512604 exon_skip_512605	149613720	149613878	149613825	149613825	Frame_Shift_Del	C	-	p.P15fs
LIHC	TCGA-DD-A3A0-01	exon_skip_512604 exon_skip_512605	149613720	149613878	149613830	149613830	Frame_Shift_Del	T	-	p.H16fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_512612	149641952	149642074	149642018	149642018	Frame_Shift_Del	A	-	p.N662fs
LIHC	TCGA-DD-A1EG-01	exon_skip_512614 exon_skip_512615	149671544	149671787	149671661	149671661	Frame_Shift_Del	T	-	p.F720fs
LGG	TCGA-DU-6392-01	exon_skip_512614 exon_skip_512615	149671544	149671787	149671607	149671607	Nonsense_Mutation	C	T	p.Q702*
BRCA	TCGA-BH-A1FG-01	exon_skip_512604 exon_skip_512605	149613720	149613878	149613879	149613879	Splice_Site	G	A	e1+1
STAD	TCGA-BR-6452-01	exon_skip_512607	149631038	149631112	149631037	149631037	Splice_Site	G	T	p.G33_splice
STAD	TCGA-HU-8602-01	exon_skip_512614 exon_skip_512615	149671544	149671787	149671788	149671788	Splice_Site	G	C	p.A762_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DU-6392-01
	Cancer type: LGG
	ESID: exon_skip_512615
	Skipped exon start: 149671544
	Skipped exon end: 149671787
	Mutation start: 149671607
	Mutation end: 149671607
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q702*
exon_skip_106946_LGG_TCGA-DU-6392-01.png
exon_skip_114879_LGG_TCGA-DU-6392-01.png
exon_skip_120606_LGG_TCGA-DU-6392-01.png
exon_skip_130417_LGG_TCGA-DU-6392-01.png
exon_skip_138304_LGG_TCGA-DU-6392-01.png
exon_skip_143841_LGG_TCGA-DU-6392-01.png
exon_skip_143843_LGG_TCGA-DU-6392-01.png
exon_skip_145922_LGG_TCGA-DU-6392-01.png
exon_skip_155098_LGG_TCGA-DU-6392-01.png
exon_skip_26359_LGG_TCGA-DU-6392-01.png
exon_skip_290929_LGG_TCGA-DU-6392-01.png
exon_skip_297109_LGG_TCGA-DU-6392-01.png
exon_skip_33957_LGG_TCGA-DU-6392-01.png
exon_skip_343170_LGG_TCGA-DU-6392-01.png
exon_skip_354191_LGG_TCGA-DU-6392-01.png
exon_skip_367235_LGG_TCGA-DU-6392-01.png
exon_skip_423495_LGG_TCGA-DU-6392-01.png
exon_skip_423582_LGG_TCGA-DU-6392-01.png
exon_skip_430528_LGG_TCGA-DU-6392-01.png
exon_skip_432953_LGG_TCGA-DU-6392-01.png
exon_skip_436589_LGG_TCGA-DU-6392-01.png
exon_skip_438105_LGG_TCGA-DU-6392-01.png
exon_skip_438310_LGG_TCGA-DU-6392-01.png
exon_skip_442085_LGG_TCGA-DU-6392-01.png
exon_skip_481046_LGG_TCGA-DU-6392-01.png
exon_skip_484517_LGG_TCGA-DU-6392-01.png
exon_skip_502736_LGG_TCGA-DU-6392-01.png
exon_skip_512614_LGG_TCGA-DU-6392-01.png
exon_skip_7508_LGG_TCGA-DU-6392-01.png
exon_skip_7509_LGG_TCGA-DU-6392-01.png
exon_skip_79467_LGG_TCGA-DU-6392-01.png
exon_skip_85050_LGG_TCGA-DU-6392-01.png
exon_skip_95050_LGG_TCGA-DU-6392-01.png
exon_skip_95053_LGG_TCGA-DU-6392-01.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
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149671544	149671787	149671683	149671684	In_Frame_Ins	-	CACATC	p.728_729insST
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149613720	149613878	149613813	149613813	Missense_Mutation	A	G	p.K11E
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149613720	149613878	149613813	149613813	Missense_Mutation	A	G	p.K11E
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149613720	149613878	149613813	149613813	Missense_Mutation	A	G	p.K11E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149613720	149613878	149613817	149613817	Missense_Mutation	G	A	p.S12N
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149613720	149613878	149613817	149613817	Missense_Mutation	G	A	p.S12N
SNU81_LARGE_INTESTINE	149631038	149631112	149631043	149631043	Missense_Mutation	G	T	p.K34N
CA922_UPPER_AERODIGESTIVE_TRACT	149641952	149642074	149642015	149642015	Missense_Mutation	G	A	p.G661R
NCIH520_LUNG	149671544	149671787	149671553	149671553	Missense_Mutation	G	C	p.D684H
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149671544	149671787	149671584	149671584	Missense_Mutation	A	C	p.H694P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149671544	149671787	149671619	149671619	Missense_Mutation	T	C	p.C706R
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149671544	149671787	149671619	149671619	Missense_Mutation	T	C	p.C706R
UACC893_BREAST	149671544	149671787	149671652	149671652	Missense_Mutation	G	T	p.G717C
HS695T_SKIN	149671544	149671787	149671713	149671713	Missense_Mutation	C	T	p.A737V
DBTRG05MG_CENTRAL_NERVOUS_SYSTEM	149671544	149671787	149671716	149671716	Missense_Mutation	C	T	p.P738L
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149671544	149671787	149671730	149671730	Missense_Mutation	G	T	p.D743Y
NCIH2286_LUNG	149631038	149631112	149631098	149631098	Nonsense_Mutation	G	T	p.G53*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAMLD1

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 MAMLD1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAMLD1

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RelatedDrugs for MAMLD1

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 MAMLD1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MAMLD1	C0848558	Hypospadias	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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