ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TAC3

Gene summary

Gene information	Gene symbol	TAC3
	Gene ID	6866
	Gene name	tachykinin 3
	Synonyms	HH10\|NKB\|NKNB\|PRO1155\|ZNEUROK1
	Cytomap	12q13.3
	Type of gene	protein-coding
	Description	tachykinin-3gamma tachykinin 3neurokinin bneuromedin Kpreprotachykinin B
	Modification date	20180519
	UniProtAcc	Q9UHF0
	Context	PubMed: TAC3 [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

Top

Exon skipping events across known transcript of Ensembl for TAC3 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.

Top

Gene isoform structures and expression levels for TAC3

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for TAC3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_93933	12	57403793:57404072:57404510:57404687:57405917:57406075	57404510:57404687	ENSG00000166863.7	ENST00000300108.3,ENST00000379411.2,ENST00000393867.1
exon_skip_93935	12	57403793:57404072:57405917:57406075:57406161:57406236	57405917:57406075	ENSG00000166863.7	ENST00000423597.1,ENST00000438756.1
exon_skip_93937	12	57406161:57406236:57406404:57406521:57406605:57406659	57406404:57406521	ENSG00000166863.7	ENST00000357616.3,ENST00000393867.1,ENST00000438756.1
exon_skip_93938	12	57406161:57406236:57406605:57406659:57407142:57407172	57406605:57406659	ENSG00000166863.7	ENST00000415231.1,ENST00000300108.3,ENST00000458521.2

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for TAC3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_93935	12	57403793:57404072:57405917:57406075:57406161:57406236	57405917:57406075	ENSG00000166863.7	ENST00000438756.1,ENST00000423597.1
exon_skip_93937	12	57406161:57406236:57406404:57406521:57406605:57406659	57406404:57406521	ENSG00000166863.7	ENST00000357616.3,ENST00000438756.1,ENST00000393867.1
exon_skip_93938	12	57406161:57406236:57406605:57406659:57407142:57407172	57406605:57406659	ENSG00000166863.7	ENST00000458521.2,ENST00000300108.3,ENST00000415231.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for TAC3

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
ENST00000415231	57406605	57406659	In-frame
ENST00000458521	57406605	57406659	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
ENST00000415231	57406605	57406659	In-frame
ENST00000458521	57406605	57406659	In-frame

Top

Infer the effects of exon skipping event on protein functional features for TAC3

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
ENST00000415231	605	121	57406605	57406659	460	513	79	97
ENST00000458521	833	121	57406605	57406659	399	452	79	97

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
ENST00000415231	605	121	57406605	57406659	460	513	79	97
ENST00000458521	833	121	57406605	57406659	399	452	79	97

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
Q9UHF0	79	97	80	98	Alternative sequence	ID=VSP_013186;Note=In isoform 3. RDMHDFFVGLMGKRSVQPD->H;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9UHF0	79	97	80	98	Alternative sequence	ID=VSP_013186;Note=In isoform 3. RDMHDFFVGLMGKRSVQPD->H;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9UHF0	79	97	82	89	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P9F
Q9UHF0	79	97	82	89	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P9F
Q9UHF0	79	97	90	90	Modified residue	Note=Methionine amide;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UHF0	79	97	90	90	Modified residue	Note=Methionine amide;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UHF0	79	97	80	80	Natural variant	ID=VAR_069969;Note=In HH10%3B phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism%3B the patient also carries a mutation in HS6ST1. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23643382;Dbxref=dbSNP:rs727505372,PMID:
Q9UHF0	79	97	80	80	Natural variant	ID=VAR_069969;Note=In HH10%3B phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism%3B the patient also carries a mutation in HS6ST1. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23643382;Dbxref=dbSNP:rs727505372,PMID:
Q9UHF0	79	97	90	90	Natural variant	ID=VAR_069176;Note=In HH10%3B has markedly reduced activity. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19079066;Dbxref=dbSNP:rs121918123,PMID:19079066
Q9UHF0	79	97	90	90	Natural variant	ID=VAR_069176;Note=In HH10%3B has markedly reduced activity. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19079066;Dbxref=dbSNP:rs121918123,PMID:19079066
Q9UHF0	79	97	81	90	Peptide	ID=PRO_0000033566;Note=Neurokinin-B
Q9UHF0	79	97	81	90	Peptide	ID=PRO_0000033566;Note=Neurokinin-B
Q9UHF0	79	97	94	121	Propeptide	ID=PRO_0000033567;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UHF0	79	97	94	121	Propeptide	ID=PRO_0000033567;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q9UHF0	79	97	80	98	Alternative sequence	ID=VSP_013186;Note=In isoform 3. RDMHDFFVGLMGKRSVQPD->H;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9UHF0	79	97	80	98	Alternative sequence	ID=VSP_013186;Note=In isoform 3. RDMHDFFVGLMGKRSVQPD->H;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9UHF0	79	97	82	89	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P9F
Q9UHF0	79	97	82	89	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P9F
Q9UHF0	79	97	90	90	Modified residue	Note=Methionine amide;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UHF0	79	97	90	90	Modified residue	Note=Methionine amide;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UHF0	79	97	80	80	Natural variant	ID=VAR_069969;Note=In HH10%3B phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism%3B the patient also carries a mutation in HS6ST1. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23643382;Dbxref=dbSNP:rs727505372,PMID:
Q9UHF0	79	97	80	80	Natural variant	ID=VAR_069969;Note=In HH10%3B phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism%3B the patient also carries a mutation in HS6ST1. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23643382;Dbxref=dbSNP:rs727505372,PMID:
Q9UHF0	79	97	90	90	Natural variant	ID=VAR_069176;Note=In HH10%3B has markedly reduced activity. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19079066;Dbxref=dbSNP:rs121918123,PMID:19079066
Q9UHF0	79	97	90	90	Natural variant	ID=VAR_069176;Note=In HH10%3B has markedly reduced activity. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19079066;Dbxref=dbSNP:rs121918123,PMID:19079066
Q9UHF0	79	97	81	90	Peptide	ID=PRO_0000033566;Note=Neurokinin-B
Q9UHF0	79	97	81	90	Peptide	ID=PRO_0000033566;Note=Neurokinin-B
Q9UHF0	79	97	94	121	Propeptide	ID=PRO_0000033567;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UHF0	79	97	94	121	Propeptide	ID=PRO_0000033567;Ontology_term=ECO:0000250;evidence=ECO:0000250

Top

SNVs in the skipped exons for TAC3

- 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

- 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

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TAC3

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

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TAC3

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TAC3

Top

RelatedDrugs for TAC3

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

Top

RelatedDiseases for TAC3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TAC3	C3553843	HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA	2	UNIPROT
TAC3	C0020619	Hypogonadism	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

Home

Download

Statistics

Landscape

Help

Contact