ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ANKRD17

Gene summary

Gene information	Gene symbol	ANKRD17
	Gene ID	26057
	Gene name	ankyrin repeat domain 17
	Synonyms	GTAR\|MASK2\|NY-BR-16
	Cytomap	4q13.3
	Type of gene	protein-coding
	Description	ankyrin repeat domain-containing protein 17gene trap ankyrin repeat proteinserologically defined breast cancer antigen NY-BR-16
	Modification date	20180523
	UniProtAcc	O75179
	Context	PubMed: ANKRD17 [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
ANKRD17	GO:0042742	defense response to bacterium	23711367
ANKRD17	GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	22328336
ANKRD17	GO:0045087	innate immune response	23711367
ANKRD17	GO:1900245	positive regulation of MDA-5 signaling pathway	22328336
ANKRD17	GO:1900246	positive regulation of RIG-I signaling pathway	22328336

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Exon skipping events across known transcript of Ensembl for ANKRD17 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 ANKRD17

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 ANKRD17

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_430037	4	73943085:73943250:73944358:73944607:73950965:73951082	73944358:73944607	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6,ENST00000509867.2,ENST00000358602.4
exon_skip_430039	4	73944358:73944607:73950965:73951163:73956383:73958017	73950965:73951163	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6,ENST00000509867.2,ENST00000358602.4
exon_skip_430040	4	73950965:73951163:73956383:73958017:73959795:73959945	73956383:73958017	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6,ENST00000509867.2,ENST00000358602.4
exon_skip_430041	4	73956383:73958017:73959795:73959945:73962833:73962989	73959795:73959945	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6,ENST00000509867.2,ENST00000358602.4
exon_skip_430044	4	73959795:73959945:73962833:73962989:73963789:73964237	73962833:73962989	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6,ENST00000509867.2,ENST00000358602.4
exon_skip_430046	4	73968191:73968264:73979508:73979625:73981537:73981633	73979508:73979625	ENSG00000132466.13	ENST00000558247.1,ENST00000561029.1,ENST00000330838.6,ENST00000560372.1,ENST00000509867.2,ENST00000358602.4
exon_skip_430050	4	73981537:73981633:73984404:73984567:73985878:73986054	73984404:73984567	ENSG00000132466.13	ENST00000558247.1,ENST00000561029.1,ENST00000330838.6,ENST00000560372.1,ENST00000509867.2,ENST00000358602.4,ENST00000514252.1
exon_skip_430052	4	74000833:74000979:74005247:74006000:74007457:74007509	74005247:74006000	ENSG00000132466.13	ENST00000558247.1,ENST00000561029.1
exon_skip_430053	4	74000833:74000982:74005247:74006000:74007457:74007509	74005247:74006000	ENSG00000132466.13	ENST00000509867.2,ENST00000358602.4,ENST00000514252.1
exon_skip_430054	4	74012480:74012590:74012957:74013149:74014529:74014767	74012957:74013149	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6,ENST00000560372.1,ENST00000509867.2,ENST00000358602.4
exon_skip_430056	4	74021735:74021883:74026908:74027065:74043096:74043250	74026908:74027065	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6,ENST00000509867.2,ENST00000358602.4
exon_skip_430058	4	74026908:74027065:74034645:74034807:74043096:74043250	74034645:74034807	ENSG00000132466.13	ENST00000559367.1
exon_skip_430059	4	74026908:74027065:74043096:74043250:74123992:74124039	74043096:74043250	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ANKRD17

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_430037	4	73943085:73943250:73944358:73944607:73950965:73951082	73944358:73944607	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6
exon_skip_430039	4	73944358:73944607:73950965:73951163:73956383:73958017	73950965:73951163	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6
exon_skip_430040	4	73950965:73951163:73956383:73958017:73959795:73959945	73956383:73958017	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6
exon_skip_430041	4	73956383:73958017:73959795:73959945:73962833:73962989	73959795:73959945	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6
exon_skip_430044	4	73959795:73959945:73962833:73962989:73963789:73964237	73962833:73962989	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6
exon_skip_430046	4	73968191:73968264:73979508:73979625:73981537:73981633	73979508:73979625	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6,ENST00000561029.1,ENST00000560372.1
exon_skip_430050	4	73981537:73981633:73984404:73984567:73985878:73986054	73984404:73984567	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6,ENST00000561029.1,ENST00000560372.1,ENST00000514252.1
exon_skip_430052	4	74000833:74000979:74005247:74006000:74007457:74007509	74005247:74006000	ENSG00000132466.13	ENST00000558247.1,ENST00000561029.1
exon_skip_430053	4	74000833:74000982:74005247:74006000:74007457:74007509	74005247:74006000	ENSG00000132466.13	ENST00000358602.4,ENST00000509867.2,ENST00000514252.1
exon_skip_430054	4	74012480:74012590:74012957:74013149:74014529:74014767	74012957:74013149	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6,ENST00000560372.1
exon_skip_430056	4	74021735:74021883:74026908:74027065:74043096:74043250	74026908:74027065	ENSG00000132466.13	ENST00000358602.4,ENST00000558247.1,ENST00000509867.2,ENST00000330838.6
exon_skip_430058	4	74026908:74027065:74034645:74034807:74043096:74043250	74034645:74034807	ENSG00000132466.13	ENST00000559367.1
exon_skip_430059	4	74026908:74027065:74043096:74043250:74123992:74124039	74043096:74043250	ENSG00000132466.13	ENST00000558247.1,ENST00000330838.6

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 ANKRD17

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
ENST00000358602	73956383	73958017	Frame-shift
ENST00000358602	73984404	73984567	Frame-shift
ENST00000358602	74026908	74027065	Frame-shift
ENST00000358602	73944358	73944607	In-frame
ENST00000358602	73950965	73951163	In-frame
ENST00000358602	73959795	73959945	In-frame
ENST00000358602	73962833	73962989	In-frame
ENST00000358602	73979508	73979625	In-frame
ENST00000358602	74005247	74006000	In-frame
ENST00000358602	74012957	74013149	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
ENST00000358602	73956383	73958017	Frame-shift
ENST00000358602	73984404	73984567	Frame-shift
ENST00000358602	74026908	74027065	Frame-shift
ENST00000358602	73944358	73944607	In-frame
ENST00000358602	73950965	73951163	In-frame
ENST00000358602	73959795	73959945	In-frame
ENST00000358602	73962833	73962989	In-frame
ENST00000358602	73979508	73979625	In-frame
ENST00000358602	74005247	74006000	In-frame
ENST00000358602	74012957	74013149	In-frame

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Infer the effects of exon skipping event on protein functional features for ANKRD17

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
ENST00000358602	10801	2603	74012957	74013149	1685	1876	522	586
ENST00000358602	10801	2603	74005247	74006000	2450	3202	777	1028
ENST00000358602	10801	2603	73979508	73979625	4402	4518	1428	1467
ENST00000358602	10801	2603	73962833	73962989	5139	5294	1674	1725
ENST00000358602	10801	2603	73959795	73959945	5295	5444	1726	1775
ENST00000358602	10801	2603	73950965	73951163	7079	7276	2320	2386
ENST00000358602	10801	2603	73944358	73944607	7277	7525	2386	2469

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
ENST00000358602	10801	2603	74012957	74013149	1685	1876	522	586
ENST00000358602	10801	2603	74005247	74006000	2450	3202	777	1028
ENST00000358602	10801	2603	73979508	73979625	4402	4518	1428	1467
ENST00000358602	10801	2603	73962833	73962989	5139	5294	1674	1725
ENST00000358602	10801	2603	73959795	73959945	5295	5444	1726	1775
ENST00000358602	10801	2603	73950965	73951163	7079	7276	2320	2386
ENST00000358602	10801	2603	73944358	73944607	7277	7525	2386	2469

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 ANKRD17

- 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
GBM	TCGA-41-4097-01	exon_skip_430039	73950966	73951163	73951059	73951059	Frame_Shift_Del	C	-	p.A2356fs
LIHC	TCGA-CC-A7IE-01	exon_skip_430040	73956384	73958017	73956454	73956454	Frame_Shift_Del	T	-	p.H2298fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_430040	73956384	73958017	73956566	73956566	Frame_Shift_Del	T	-	p.N2260fs
COAD	TCGA-A6-5661-01	exon_skip_430040	73956384	73958017	73956601	73956601	Frame_Shift_Del	G	-	p.L1998fs
LIHC	TCGA-DD-A3A0-01	exon_skip_430040	73956384	73958017	73956828	73956828	Frame_Shift_Del	T	-	p.M2173fs
LIHC	TCGA-DD-A3A0-01	exon_skip_430040	73956384	73958017	73956953	73956953	Frame_Shift_Del	G	-	p.P2131fs
LIHC	TCGA-DD-A1EG-01	exon_skip_430040	73956384	73958017	73957348	73957348	Frame_Shift_Del	A	-	p.F1999fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_430040	73956384	73958017	73957348	73957348	Frame_Shift_Del	A	-	p.F1999fs
LIHC	TCGA-DD-A39Y-01	exon_skip_430040	73956384	73958017	73957752	73957752	Frame_Shift_Del	T	-	p.T1865fs
LIHC	TCGA-DD-A1EG-01	exon_skip_430040	73956384	73958017	73957773	73957773	Frame_Shift_Del	A	-	p.S1859fs
LIHC	TCGA-BC-A3KG-01	exon_skip_430041	73959796	73959945	73959898	73959898	Frame_Shift_Del	C	-	p.G1742fs
LIHC	TCGA-DD-A39Y-01	exon_skip_430046	73979509	73979625	73979546	73979546	Frame_Shift_Del	T	-	p.N1455fs
LIHC	TCGA-DD-A3A0-01	exon_skip_430046	73979509	73979625	73979546	73979546	Frame_Shift_Del	T	-	p.N1455fs
LIHC	TCGA-DD-A3A0-01	exon_skip_430050	73984405	73984567	73984544	73984544	Frame_Shift_Del	T	-	p.N1350fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_430050	73984405	73984567	73984549	73984549	Frame_Shift_Del	T	-	p.V1348fs
LIHC	TCGA-DD-A3A0-01	exon_skip_430053 exon_skip_430052	74005248	74006000	74005736	74005736	Frame_Shift_Del	A	-	p.L866fs
LIHC	TCGA-DD-A1EG-01	exon_skip_430053 exon_skip_430052	74005248	74006000	74005902	74005902	Frame_Shift_Del	C	-	p.A811fs
KICH	TCGA-KM-8639-01	exon_skip_430054	74012958	74013149	74012976	74012979	Frame_Shift_Del	TAAC	-	p.580_581del
KICH	TCGA-KM-8639-01	exon_skip_430054	74012958	74013149	74012976	74012979	Frame_Shift_Del	TAAC	-	p.V580fs
UCEC	TCGA-AP-A0LH-01	exon_skip_430040	73956384	73958017	73957408	73957409	Frame_Shift_Ins	-	G	p.T1979fs
LIHC	TCGA-CC-5260-01	exon_skip_430059	74043097	74043250	74043114	74043115	Frame_Shift_Ins	-	C	p.A177fs
CESC	TCGA-EK-A2PL-01	exon_skip_430040	73956384	73958017	73956516	73956516	Nonsense_Mutation	G	A	p.Q2277*
LGG	TCGA-QH-A6CY-01	exon_skip_430040	73956384	73958017	73957008	73957008	Nonsense_Mutation	C	A	p.G2113*
READ	TCGA-AG-A002-01	exon_skip_430053 exon_skip_430052	74005248	74006000	74005398	74005398	Nonsense_Mutation	C	A	p.E979X
DLBC	TCGA-FA-A82F-01	exon_skip_430053 exon_skip_430052	74005248	74006000	74005713	74005713	Nonsense_Mutation	G	A	p.R874X
COAD	TCGA-CA-6717-01	exon_skip_430053 exon_skip_430052	74005248	74006000	74005854	74005854	Nonsense_Mutation	C	A	p.E827X
UCEC	TCGA-B5-A0JY-01	exon_skip_430053 exon_skip_430052	74005248	74006000	74005854	74005854	Nonsense_Mutation	C	A	p.E827*
SARC	TCGA-IW-A3M4-01	exon_skip_430054	74012958	74013149	74012985	74012985	Nonsense_Mutation	C	A	p.E578*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CA-6717-01
	Cancer type: COAD
	ESID: exon_skip_430052
	Skipped exon start: 74005248
	Skipped exon end: 74006000
	Mutation start: 74005854
	Mutation end: 74005854
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E827X
exon_skip_107202_COAD_TCGA-CA-6717-01.png
exon_skip_135085_COAD_TCGA-CA-6717-01.png
exon_skip_284772_COAD_TCGA-CA-6717-01.png
exon_skip_28826_COAD_TCGA-CA-6717-01.png
exon_skip_304901_COAD_TCGA-CA-6717-01.png
exon_skip_430052_COAD_TCGA-CA-6717-01.png
exon_skip_430053_COAD_TCGA-CA-6717-01.png
exon_skip_433462_COAD_TCGA-CA-6717-01.png
exon_skip_439050_COAD_TCGA-CA-6717-01.png
exon_skip_482455_COAD_TCGA-CA-6717-01.png
exon_skip_503414_COAD_TCGA-CA-6717-01.png
	Sample: TCGA-CA-6717-01
	Cancer type: COAD
	ESID: exon_skip_430052
	Skipped exon start: 74005248
	Skipped exon end: 74006000
	Mutation start: 74005854
	Mutation end: 74005854
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E827X
exon_skip_107202_COAD_TCGA-CA-6717-01.png
exon_skip_135085_COAD_TCGA-CA-6717-01.png
exon_skip_284772_COAD_TCGA-CA-6717-01.png
exon_skip_28826_COAD_TCGA-CA-6717-01.png
exon_skip_304901_COAD_TCGA-CA-6717-01.png
exon_skip_430052_COAD_TCGA-CA-6717-01.png
exon_skip_430053_COAD_TCGA-CA-6717-01.png
exon_skip_433462_COAD_TCGA-CA-6717-01.png
exon_skip_439050_COAD_TCGA-CA-6717-01.png
exon_skip_482455_COAD_TCGA-CA-6717-01.png
exon_skip_503414_COAD_TCGA-CA-6717-01.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
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73944359	73944607	73944529	73944529	Frame_Shift_Del	T	-	p.K2413fs
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73956384	73958017	73956592	73956593	Frame_Shift_Del	AA	-	p.F2251fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005811	74005812	Frame_Shift_Ins	-	CA	p.D841fs
BICR18_UPPER_AERODIGESTIVE_TRACT	73956384	73958017	73956835	73956837	In_Frame_Del	AGT	-	p.T2170del
MRKNU1_BREAST	73956384	73958017	73957281	73957283	In_Frame_Del	TGT	-	p.N2021del
NCIH1573_LUNG	73956384	73958017	73957281	73957283	In_Frame_Del	TGT	-	p.N2021del
SNB75_CENTRAL_NERVOUS_SYSTEM	73944359	73944607	73944364	73944364	Missense_Mutation	T	C	p.N2468S
TE10_OESOPHAGUS	73944359	73944607	73944434	73944434	Missense_Mutation	C	T	p.V2445I
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73944359	73944607	73944448	73944448	Missense_Mutation	G	A	p.T2440M
NB17_AUTONOMIC_GANGLIA	73944359	73944607	73944451	73944451	Missense_Mutation	C	A	p.G2439V
SNU1040_LARGE_INTESTINE	73944359	73944607	73944467	73944467	Missense_Mutation	G	A	p.R2434C
MCC13_SKIN	73944359	73944607	73944575	73944575	Missense_Mutation	G	A	p.R2398C
HEC251_ENDOMETRIUM	73950966	73951163	73950969	73950969	Missense_Mutation	T	C	p.N2386D
CS1_BONE	73950966	73951163	73951056	73951056	Missense_Mutation	G	A	p.P2357S
SNU201_CENTRAL_NERVOUS_SYSTEM	73950966	73951163	73951085	73951085	Missense_Mutation	G	A	p.S2347L
NCIH1876_LUNG	73950966	73951163	73951111	73951111	Missense_Mutation	A	C	p.H2338Q
BICR18_UPPER_AERODIGESTIVE_TRACT	73950966	73951163	73951146	73951146	Missense_Mutation	A	T	p.S2327T
LU99_LUNG	73950966	73951163	73951155	73951155	Missense_Mutation	T	C	p.N2324D
SNU1040_LARGE_INTESTINE	73956384	73958017	73956513	73956513	Missense_Mutation	A	G	p.S2278P
BICR18_UPPER_AERODIGESTIVE_TRACT	73956384	73958017	73956531	73956531	Missense_Mutation	A	G	p.S2272P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73956384	73958017	73956531	73956531	Missense_Mutation	A	G	p.S2272P
NCIH2286_LUNG	73956384	73958017	73956537	73956537	Missense_Mutation	C	G	p.G2270R
ESO51_OESOPHAGUS	73956384	73958017	73956569	73956569	Missense_Mutation	T	A	p.E2259V
BICR18_UPPER_AERODIGESTIVE_TRACT	73956384	73958017	73956624	73956624	Missense_Mutation	T	C	p.I2241V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73956384	73958017	73956624	73956624	Missense_Mutation	T	C	p.I2241V
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73956384	73958017	73956624	73956624	Missense_Mutation	T	C	p.I2241V
NCIH1299_LUNG	73956384	73958017	73956729	73956729	Missense_Mutation	T	G	p.N2206H
ES8_BONE	73956384	73958017	73956821	73956821	Missense_Mutation	G	C	p.T2175S
HEC108_ENDOMETRIUM	73956384	73958017	73956822	73956822	Missense_Mutation	T	C	p.T2175A
CAL12T_LUNG	73956384	73958017	73956887	73956887	Missense_Mutation	G	C	p.A2153G
TYKNU_OVARY	73956384	73958017	73956944	73956944	Missense_Mutation	C	G	p.R2134T
LS1034_LARGE_INTESTINE	73956384	73958017	73956964	73956964	Missense_Mutation	C	A	p.Q2127H
CORL23_LUNG	73956384	73958017	73957028	73957028	Missense_Mutation	G	C	p.S2106C
SN12C_KIDNEY	73956384	73958017	73957055	73957055	Missense_Mutation	C	A	p.S2097I
HEC251_ENDOMETRIUM	73956384	73958017	73957104	73957104	Missense_Mutation	T	G	p.S2081R
MFE319_ENDOMETRIUM	73956384	73958017	73957119	73957119	Missense_Mutation	C	T	p.E2076K
NCIH1838_LUNG	73956384	73958017	73957169	73957169	Missense_Mutation	C	A	p.S2059I
SCABER_URINARY_TRACT	73956384	73958017	73957239	73957239	Missense_Mutation	C	G	p.E2036Q
SNU1040_LARGE_INTESTINE	73956384	73958017	73957252	73957252	Missense_Mutation	C	T	p.M2031I
VCAP_PROSTATE	73956384	73958017	73957332	73957332	Missense_Mutation	T	G	p.T2005P
BICR18_UPPER_AERODIGESTIVE_TRACT	73956384	73958017	73957428	73957428	Missense_Mutation	T	C	p.T1973A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73956384	73958017	73957428	73957428	Missense_Mutation	T	C	p.T1973A
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73956384	73958017	73957470	73957470	Missense_Mutation	C	T	p.V1959M
HSC2_UPPER_AERODIGESTIVE_TRACT	73956384	73958017	73957524	73957524	Missense_Mutation	G	C	p.P1941A
ONS76_CENTRAL_NERVOUS_SYSTEM	73956384	73958017	73957569	73957569	Missense_Mutation	G	A	p.P1926S
SNU1040_LARGE_INTESTINE	73956384	73958017	73957635	73957635	Missense_Mutation	G	A	p.R1904C
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73956384	73958017	73957646	73957646	Missense_Mutation	A	C	p.F1900C
NCIH630_LARGE_INTESTINE	73956384	73958017	73957721	73957721	Missense_Mutation	G	T	p.P1875H
A375_SKIN	73956384	73958017	73957728	73957728	Missense_Mutation	C	T	p.V1873M
MDAMB361_BREAST	73956384	73958017	73957728	73957728	Missense_Mutation	C	T	p.V1873M
JHUEM7_ENDOMETRIUM	73956384	73958017	73957730	73957730	Missense_Mutation	T	C	p.N1872S
SBC3_LUNG	73956384	73958017	73957767	73957767	Missense_Mutation	C	A	p.A1860S
ES4_BONE	73956384	73958017	73957858	73957858	Missense_Mutation	G	T	p.N1829K
NCIH1793_LUNG	73956384	73958017	73957890	73957890	Missense_Mutation	C	A	p.G1819W
BICR18_UPPER_AERODIGESTIVE_TRACT	73956384	73958017	73957908	73957908	Missense_Mutation	A	T	p.S1813T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73956384	73958017	73957908	73957908	Missense_Mutation	A	T	p.S1813T
NB1_AUTONOMIC_GANGLIA	73956384	73958017	73957988	73957988	Missense_Mutation	G	T	p.T1786N
COLO783_SKIN	73959796	73959945	73959802	73959802	Missense_Mutation	G	A	p.T1774I
NUGC3_STOMACH	73959796	73959945	73959869	73959869	Missense_Mutation	G	A	p.R1752W
JHH2_LIVER	73962834	73962989	73962883	73962883	Missense_Mutation	G	A	p.P1710S
NCIH2347_LUNG	73962834	73962989	73962894	73962894	Missense_Mutation	G	C	p.T1706R
SW480_LARGE_INTESTINE	73962834	73962989	73962910	73962910	Missense_Mutation	G	A	p.P1701S
CW2_LARGE_INTESTINE	73962834	73962989	73962963	73962963	Missense_Mutation	G	A	p.T1683I
R262_CENTRAL_NERVOUS_SYSTEM	73979509	73979625	73979524	73979524	Missense_Mutation	C	A	p.E1462D
NCIH1339_LUNG	73979509	73979625	73979527	73979527	Missense_Mutation	C	A	p.E1461D
HEC1A_ENDOMETRIUM	73979509	73979625	73979543	73979543	Missense_Mutation	G	A	p.A1456V
HEC1_ENDOMETRIUM	73979509	73979625	73979543	73979543	Missense_Mutation	G	A	p.A1456V
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73979509	73979625	73979544	73979544	Missense_Mutation	C	T	p.A1456T
NCIH2066_LUNG	73984405	73984567	73984467	73984467	Missense_Mutation	C	T	p.G1376S
KPNYN_AUTONOMIC_GANGLIA	74005248	74006000	74005338	74005338	Missense_Mutation	C	A	p.G999W
PACADD119_PANCREAS	74005248	74006000	74005425	74005425	Missense_Mutation	G	C	p.P970A
BICR18_UPPER_AERODIGESTIVE_TRACT	74005248	74006000	74005437	74005438	Missense_Mutation	CC	TT	p.A966T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005437	74005438	Missense_Mutation	CC	TT	p.A966T
KYSE150_OESOPHAGUS	74005248	74006000	74005550	74005550	Missense_Mutation	C	A	p.R928L
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005553	74005553	Missense_Mutation	G	A	p.A927V
SNUC4_LARGE_INTESTINE	74005248	74006000	74005573	74005573	Missense_Mutation	C	G	p.Q920H
CW2_LARGE_INTESTINE	74005248	74006000	74005592	74005592	Missense_Mutation	G	T	p.P914H
NCIH1048_LUNG	74005248	74006000	74005610	74005610	Missense_Mutation	T	C	p.H908R
LU99_LUNG	74005248	74006000	74005611	74005611	Missense_Mutation	G	T	p.H908N
NCIH1355_LUNG	74005248	74006000	74005712	74005712	Missense_Mutation	C	T	p.R874Q
NCIH513_PLEURA	74005248	74006000	74005764	74005764	Missense_Mutation	C	T	p.E857K
CW2_LARGE_INTESTINE	74005248	74006000	74005941	74005941	Missense_Mutation	A	G	p.Y798H
F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005950	74005950	Missense_Mutation	C	T	p.V795I
BICR18_UPPER_AERODIGESTIVE_TRACT	74005248	74006000	74005979	74005979	Missense_Mutation	C	T	p.S785N
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005979	74005979	Missense_Mutation	C	T	p.S785N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005979	74005979	Missense_Mutation	C	T	p.S785N
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005979	74005979	Missense_Mutation	C	T	p.S785N
TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005991	74005991	Missense_Mutation	T	C	p.K781R
HEC251_ENDOMETRIUM	74012958	74013149	74013042	74013042	Missense_Mutation	C	T	p.D559N
CCK81_LARGE_INTESTINE	74012958	74013149	74013051	74013051	Missense_Mutation	C	T	p.A556T
HCC2998_LARGE_INTESTINE	74012958	74013149	74013128	74013128	Missense_Mutation	G	C	p.T530R
NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74043097	74043250	74043208	74043208	Missense_Mutation	T	C	p.M146V
SW684_SOFT_TISSUE	74043097	74043250	74043210	74043210	Missense_Mutation	G	A	p.P145L
JHH2_LIVER	73956384	73958017	73956450	73956450	Nonsense_Mutation	G	A	p.Q2299*
HEC251_ENDOMETRIUM	73956384	73958017	73957421	73957421	Nonsense_Mutation	G	T	p.S1975*
JHUEM7_ENDOMETRIUM	73956384	73958017	73957950	73957950	Nonsense_Mutation	C	A	p.E1799*
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74005248	74006000	74005692	74005692	Nonsense_Mutation	G	A	p.Q881*
BICR18_UPPER_AERODIGESTIVE_TRACT	73944359	73944607	73944606	73944606	Splice_Site	A	C	p.D2387E
NCIH650_LUNG	73956384	73958017	73958017	73958017	Splice_Site	C	A	p.R1776S
IGROV1_OVARY	73962834	73962989	73962988	73962988	Splice_Site	A	G	p.L1675L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD17

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 ANKRD17

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD17

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RelatedDrugs for ANKRD17

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 ANKRD17

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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