ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NAALADL2

Gene summary

Gene information	Gene symbol	NAALADL2
	Gene ID	254827
	Gene name	N-acetylated alpha-linked acidic dipeptidase like 2
	Synonyms	-
	Cytomap	3q26.31
	Type of gene	protein-coding
	Description	inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2N-acetylated alpha-linked acidic dipeptidase 2NAALADase L2glutamate carboxypeptidase II-type non-peptidase homologue
	Modification date	20180519
	UniProtAcc	Q58DX5
	Context	PubMed: NAALADL2 [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 NAALADL2 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 NAALADL2

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 NAALADL2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_379503	3	174158776:174158822:174176303:174176386:174177030:174177102	174176303:174176386	ENSG00000177694.10	ENST00000481679.1,ENST00000478624.1
exon_skip_379507	3	174158776:174158822:174254410:174254473:174268358:174268427	174254410:174254473	ENSG00000177694.10	ENST00000489729.1,ENST00000495900.1
exon_skip_379509	3	174158776:174158822:174268358:174268427:174455430:174455536	174268358:174268427	ENSG00000177694.10	ENST00000434257.1
exon_skip_379517	3	174577111:174577240:174814579:174815081:174951720:174951994	174814579:174815081	ENSG00000177694.10	ENST00000485853.1,ENST00000454872.1
exon_skip_379518	3	174951720:174951994:174974199:174974319:175041963:175042114	174974199:174974319	ENSG00000177694.10	ENST00000489299.1,ENST00000473253.1,ENST00000454872.1
exon_skip_379519	3	174974199:174974319:175041963:175042114:175165016:175165160	175041963:175042114	ENSG00000177694.10	ENST00000473253.1,ENST00000454872.1
exon_skip_379520	3	175041963:175042114:175165016:175165160:175181188:175181281	175165016:175165160	ENSG00000177694.10	ENST00000473253.1,ENST00000454872.1
exon_skip_379521	3	175165016:175165160:175177832:175177963:175181188:175181281	175177832:175177963	ENSG00000177694.10	ENST00000414826.1
exon_skip_379522	3	175165016:175165160:175181188:175181281:175184766:175184972	175181188:175181281	ENSG00000177694.10	ENST00000473253.1,ENST00000454872.1
exon_skip_379526	3	175181188:175181281:175184766:175184972:175189426:175189546	175184766:175184972	ENSG00000177694.10	ENST00000489299.1,ENST00000473253.1,ENST00000454872.1,ENST00000414826.1
exon_skip_379527	3	175189426:175189546:175293828:175293975:175345078:175345174	175293828:175293975	ENSG00000177694.10	ENST00000489299.1,ENST00000454872.1
exon_skip_379531	3	175293828:175293975:175345078:175345174:175455093:175455187	175345078:175345174	ENSG00000177694.10	ENST00000454872.1
exon_skip_379533	3	175345078:175345174:175455093:175455187:175473007:175473206	175455093:175455187	ENSG00000177694.10	ENST00000454872.1
exon_skip_379537	3	175455093:175455187:175473007:175473206:175520792:175523428	175473007:175473206	ENSG00000177694.10	ENST00000454872.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NAALADL2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_379503	3	174158776:174158822:174176303:174176386:174177030:174177102	174176303:174176386	ENSG00000177694.10	ENST00000481679.1,ENST00000478624.1
exon_skip_379507	3	174158776:174158822:174254410:174254473:174268358:174268427	174254410:174254473	ENSG00000177694.10	ENST00000495900.1,ENST00000489729.1
exon_skip_379509	3	174158776:174158822:174268358:174268427:174455430:174455536	174268358:174268427	ENSG00000177694.10	ENST00000434257.1
exon_skip_379519	3	174974199:174974319:175041963:175042114:175165016:175165160	175041963:175042114	ENSG00000177694.10	ENST00000454872.1,ENST00000473253.1
exon_skip_379520	3	175041963:175042114:175165016:175165160:175181188:175181281	175165016:175165160	ENSG00000177694.10	ENST00000454872.1,ENST00000473253.1
exon_skip_379521	3	175165016:175165160:175177832:175177963:175181188:175181281	175177832:175177963	ENSG00000177694.10	ENST00000414826.1
exon_skip_379522	3	175165016:175165160:175181188:175181281:175184766:175184972	175181188:175181281	ENSG00000177694.10	ENST00000454872.1,ENST00000473253.1
exon_skip_379526	3	175181188:175181281:175184766:175184972:175189426:175189546	175184766:175184972	ENSG00000177694.10	ENST00000454872.1,ENST00000473253.1,ENST00000489299.1,ENST00000414826.1
exon_skip_379527	3	175189426:175189546:175293828:175293975:175345078:175345174	175293828:175293975	ENSG00000177694.10	ENST00000454872.1,ENST00000489299.1
exon_skip_379531	3	175293828:175293975:175345078:175345174:175455093:175455187	175345078:175345174	ENSG00000177694.10	ENST00000454872.1
exon_skip_379537	3	175455093:175455187:175473007:175473206:175520792:175523428	175473007:175473206	ENSG00000177694.10	ENST00000454872.1

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 NAALADL2

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 NAALADL2

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 NAALADL2

- 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_379517	174814580	174815081	174814716	174814716	Frame_Shift_Del	T	-	p.G60fs
LGG	TCGA-DU-6392-01	exon_skip_379517	174814580	174815081	174814914	174814914	Frame_Shift_Del	A	-	p.L126fs
HNSC	TCGA-WA-A7GZ-01	exon_skip_379517	174814580	174815081	174815058	174815068	Frame_Shift_Del	AGAAGATATTA	-	p.AEDIK174fs
LIHC	TCGA-DD-A39Y-01		174974200	174974319	174974238	174974238	Frame_Shift_Del	T	-	p.D286fs
LIHC	TCGA-DD-A3A0-01		174974200	174974319	174974259	174974259	Frame_Shift_Del	A	-	p.I293fs
LIHC	TCGA-G3-A3CJ-01		174974200	174974319	174974290	174974290	Frame_Shift_Del	A	-	p.K304fs
LIHC	TCGA-DD-A3A0-01	exon_skip_379520	175165017	175165160	175165079	175165079	Frame_Shift_Del	C	-	p.P385fs
PRAD	TCGA-EJ-8468-01	exon_skip_379520	175165017	175165160	175165149	175165149	Frame_Shift_Del	T	-	p.L408fs
UCEC	TCGA-AP-A0LE-01	exon_skip_379526	175184767	175184972	175184883	175184884	Frame_Shift_Del	AA	-	p.K482fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_379526	175184767	175184972	175184914	175184914	Frame_Shift_Del	T	-	p.V492fs
KIRP	TCGA-UZ-A9PK-01	exon_skip_379526	175184767	175184972	175184939	175184939	Frame_Shift_Del	T	-	p.A500fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_379527	175293829	175293975	175293946	175293946	Frame_Shift_Del	T	-	p.F591fs
LIHC	TCGA-DD-A39Y-01	exon_skip_379531	175345079	175345174	175345099	175345099	Frame_Shift_Del	G	-	p.E607fs
SKCM	TCGA-GN-A26D-06	exon_skip_379537	175473008	175473206	175473198	175473198	Frame_Shift_Del	T	-	p.G727fs
UCEC	TCGA-AP-A0LH-01	exon_skip_379517	174814580	174815081	174814899	174814900	Frame_Shift_Ins	-	T	p.N121fs
ACC	TCGA-OR-A5JF-01	exon_skip_379517	174814580	174815081	174814615	174814615	Nonsense_Mutation	C	T	p.Q27*
ACC	TCGA-OR-A5JF-01	exon_skip_379517	174814580	174815081	174814615	174814615	Nonsense_Mutation	C	T	p.Q27X
UCEC	TCGA-AP-A059-01	exon_skip_379517	174814580	174815081	174814660	174814660	Nonsense_Mutation	C	T	p.Q42*
LUAD	TCGA-MN-A4N4-01	exon_skip_379517	174814580	174815081	174814685	174814685	Nonsense_Mutation	G	A	p.W50*
UCEC	TCGA-B5-A0K0-01	exon_skip_379517	174814580	174815081	174814723	174814723	Nonsense_Mutation	C	T	p.Q63*
PAAD	TCGA-IB-8127-01	exon_skip_379517	174814580	174815081	174815006	174815006	Nonsense_Mutation	C	A	p.S157*
BLCA	TCGA-XF-AAML-01	exon_skip_379517	174814580	174815081	174815023	174815023	Nonsense_Mutation	C	T	p.Q163*
LUAD	TCGA-78-8662-01		174974200	174974319	174974224	174974224	Nonsense_Mutation	G	T	p.G282*
LUAD	TCGA-69-A59K-01	exon_skip_379520	175165017	175165160	175165127	175165127	Nonsense_Mutation	G	T	p.E401*
LUAD	TCGA-73-4658-01	exon_skip_379526	175184767	175184972	175184875	175184875	Nonsense_Mutation	C	G	p.S479*
ESCA	TCGA-L5-A4OR-01	exon_skip_379526	175184767	175184972	175184904	175184904	Nonsense_Mutation	C	T	p.R489*
SKCM	TCGA-EE-A29D-06	exon_skip_379537	175473008	175473206	175473076	175473076	Nonsense_Mutation	C	T	p.Q687*

- 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
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	174814580	174815081	174814587	174814587	Frame_Shift_Del	G	-	p.K17fs
CW2_LARGE_INTESTINE	175345079	175345174	175345134	175345134	Frame_Shift_Del	A	-	p.E619fs
SKOV3_OVARY	174814580	174815081	174814913	174814914	Frame_Shift_Ins	-	A	p.LK126fs
GOS3_CENTRAL_NERVOUS_SYSTEM	174974200	174974319	174974258	174974259	Frame_Shift_Ins	-	A	p.IK293fs
HCC2998_LARGE_INTESTINE	174814580	174815081	174814587	174814587	Missense_Mutation	G	T	p.K17N
TC205_BONE	174814580	174815081	174814657	174814657	Missense_Mutation	C	T	p.L41F
YD10B_UPPER_AERODIGESTIVE_TRACT	174814580	174815081	174814695	174814695	Missense_Mutation	G	T	p.E53D
JHH7_LIVER	174814580	174815081	174815005	174815005	Missense_Mutation	T	A	p.S157T
LXF289_LUNG	174814580	174815081	174815006	174815006	Missense_Mutation	C	T	p.S157L
RT4_URINARY_TRACT	174814580	174815081	174815073	174815073	Missense_Mutation	G	C	p.K179N
OVK18_OVARY	174974200	174974319	174974213	174974213	Missense_Mutation	A	T	p.D278V
HCC2998_LARGE_INTESTINE	174974200	174974319	174974244	174974244	Missense_Mutation	A	C	p.K288N
SNU349_KIDNEY	174974200	174974319	174974246	174974246	Missense_Mutation	G	T	p.R289M
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	174974200	174974319	174974266	174974266	Missense_Mutation	G	T	p.V296L
HCT116_LARGE_INTESTINE	174974200	174974319	174974281	174974281	Missense_Mutation	G	A	p.A301T
IM95_STOMACH	174974200	174974319	174974281	174974281	Missense_Mutation	G	A	p.A301T
SNU1040_LARGE_INTESTINE	174974200	174974319	174974281	174974281	Missense_Mutation	G	A	p.A301T
NY_BONE	175041964	175042114	175041985	175041985	Missense_Mutation	G	A	p.G321R
PACADD161_PANCREAS	175041964	175042114	175042012	175042012	Missense_Mutation	G	A	p.D330N
SW684_SOFT_TISSUE	175041964	175042114	175042012	175042012	Missense_Mutation	G	A	p.D330N
IPC298_SKIN	175041964	175042114	175042042	175042042	Missense_Mutation	C	T	p.P340S
HCC1359_LUNG	175041964	175042114	175042045	175042045	Missense_Mutation	A	T	p.S341C
MDAMB453_BREAST	175041964	175042114	175042046	175042046	Missense_Mutation	G	T	p.S341I
SNU1040_LARGE_INTESTINE	175041964	175042114	175042093	175042093	Missense_Mutation	A	G	p.T357A
HCC1569_BREAST	175041964	175042114	175042094	175042094	Missense_Mutation	C	T	p.T357M
NCIH748_LUNG	175041964	175042114	175042094	175042094	Missense_Mutation	C	T	p.T357M
M14_SKIN	175165017	175165160	175165068	175165068	Missense_Mutation	C	T	p.P381L
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175165017	175165160	175165155	175165155	Missense_Mutation	A	G	p.N410S
JAR_PLACENTA	175181189	175181281	175181212	175181212	Missense_Mutation	G	T	p.V420F
HKA1_SKIN	175181189	175181281	175181225	175181225	Missense_Mutation	C	A	p.T424K
NCIH2286_LUNG	175181189	175181281	175181227	175181227	Missense_Mutation	A	G	p.K425E
HCC1569_BREAST	175181189	175181281	175181242	175181242	Missense_Mutation	A	G	p.T430A
NCIH1105_LUNG	175181189	175181281	175181255	175181255	Missense_Mutation	G	T	p.G434V
HEC251_ENDOMETRIUM	175181189	175181281	175181258	175181258	Missense_Mutation	T	G	p.F435C
TE14_OESOPHAGUS	175181189	175181281	175181264	175181264	Missense_Mutation	T	C	p.M437T
EN_ENDOMETRIUM	175181189	175181281	175181272	175181272	Missense_Mutation	A	G	p.T440A
LCLC97TM1_LUNG	175184767	175184972	175184781	175184781	Missense_Mutation	G	T	p.V448F
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175184767	175184972	175184809	175184809	Missense_Mutation	G	A	p.S457N
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175184767	175184972	175184835	175184835	Missense_Mutation	A	G	p.S466G
MKN74_STOMACH	175184767	175184972	175184835	175184835	Missense_Mutation	A	G	p.S466G
AM38_CENTRAL_NERVOUS_SYSTEM	175184767	175184972	175184835	175184835	Missense_Mutation	A	G	p.S466G
HN_UPPER_AERODIGESTIVE_TRACT	175184767	175184972	175184835	175184835	Missense_Mutation	A	G	p.S466G
MKN28_STOMACH	175184767	175184972	175184835	175184835	Missense_Mutation	A	G	p.S466G
MRKNU1_BREAST	175184767	175184972	175184835	175184835	Missense_Mutation	A	G	p.S466G
TE4_OESOPHAGUS	175184767	175184972	175184835	175184835	Missense_Mutation	A	G	p.S466G
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175184767	175184972	175184835	175184835	Missense_Mutation	A	G	p.S466G
HEC108_ENDOMETRIUM	175184767	175184972	175184862	175184862	Missense_Mutation	C	T	p.R475C
HDQP1_BREAST	175184767	175184972	175184890	175184890	Missense_Mutation	G	A	p.G484E
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175184767	175184972	175184898	175184898	Missense_Mutation	C	G	p.P487A
BT483_BREAST	175184767	175184972	175184901	175184901	Missense_Mutation	G	C	p.D488H
NCIH2135_LUNG	175184767	175184972	175184901	175184901	Missense_Mutation	G	C	p.D488H
SW48_LARGE_INTESTINE	175184767	175184972	175184905	175184905	Missense_Mutation	G	A	p.R489Q
TE6_OESOPHAGUS	175184767	175184972	175184937	175184937	Missense_Mutation	G	A	p.A500T
SNU503_LARGE_INTESTINE	175184767	175184972	175184944	175184944	Missense_Mutation	G	T	p.G502V
NCIH187_LUNG	175293829	175293975	175293887	175293887	Missense_Mutation	T	C	p.I571T
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175293829	175293975	175293889	175293889	Missense_Mutation	C	G	p.Q572E
LB831BLC_URINARY_TRACT	175293829	175293975	175293955	175293955	Missense_Mutation	G	A	p.E594K
LCLC97TM1_LUNG	175293829	175293975	175293973	175293973	Missense_Mutation	G	C	p.E600Q
HEC59_ENDOMETRIUM	175345079	175345174	175345097	175345097	Missense_Mutation	G	A	p.E607K
EN_ENDOMETRIUM	175345079	175345174	175345112	175345112	Missense_Mutation	A	G	p.T612A
KYSE520_OESOPHAGUS	175345079	175345174	175345170	175345170	Missense_Mutation	C	T	p.T631I
NCIH1688_LUNG	175345079	175345174	175345170	175345170	Missense_Mutation	C	T	p.T631I
NCIH1688_LUNG	175473008	175473206	175473043	175473043	Missense_Mutation	G	T	p.A676S
A375_SKIN	175473008	175473206	175473103	175473103	Missense_Mutation	G	A	p.D696N
SNU81_LARGE_INTESTINE	175473008	175473206	175473151	175473151	Missense_Mutation	C	A	p.L712I
MFE319_ENDOMETRIUM	175473008	175473206	175473161	175473161	Missense_Mutation	T	C	p.M715T
SNUC2B_LARGE_INTESTINE	175473008	175473206	175473185	175473185	Missense_Mutation	A	C	p.Q723P
SNU1040_LARGE_INTESTINE	175473008	175473206	175473193	175473193	Missense_Mutation	C	T	p.P726S
SNU81_LARGE_INTESTINE	175473008	175473206	175473193	175473193	Missense_Mutation	C	A	p.P726T
NCIH661_LUNG	175473008	175473206	175473197	175473197	Missense_Mutation	G	A	p.G727D
IPC298_SKIN	174814580	174815081	174814597	174814597	Nonsense_Mutation	C	T	p.Q21*
NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175184767	175184972	175184894	175184894	Nonsense_Mutation	G	A	p.W485*
2313287_STOMACH	175473008	175473206	175473091	175473091	Nonsense_Mutation	C	T	p.R692*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NAALADL2

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 NAALADL2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAALADL2

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RelatedDrugs for NAALADL2

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 NAALADL2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	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 NAALADL2

Exon skipping events across known transcript of Ensembl for NAALADL2 from UCSC genome browser

Gene isoform structures and expression levels for NAALADL2

Exon skipping events with PSIs in TCGA for NAALADL2

Exon skipping events with PSIs in GTEx for NAALADL2

Open reading frame (ORF) annotation in the exon skipping event for NAALADL2

Infer the effects of exon skipping event on protein functional features for NAALADL2

SNVs in the skipped exons for NAALADL2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NAALADL2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAALADL2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAALADL2

RelatedDrugs for NAALADL2

RelatedDiseases for NAALADL2