ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ZNF638

Gene summary

Gene information	Gene symbol	ZNF638
	Gene ID	27332
	Gene name	zinc finger protein 638
	Synonyms	NP220\|ZFML\|Zfp638
	Cytomap	2p13.3-p13.2
	Type of gene	protein-coding
	Description	zinc finger protein 638CTCL tumor antigen se33-1CTCL-associated antigen se33-1NP220 nuclear proteincutaneous T-cell lymphoma-associated antigen se33-1nuclear protein 220zinc finger matrin-like protein
	Modification date	20200313
	UniProtAcc	A0A096LNQ0, A0A096LNR2, A0A096LNS4, A0A096LNX0, A0A096LPB4, A0A096LPI0, A0A096LPK8, C9JHV0, C9JMR2, C9JSD0, C9JWN0, D6W5H1, Q14966,
	Context

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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Gene structures and expression levels for ZNF638

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000075292

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	DOWN	ENST00000483421.7	ZNF638-217:retained_intron:ZNF638	6.804967e+02	-1.135556e+00	9.652324e-14	2.211512e-11
CB	DOWN	ENST00000461991.3	ZNF638-211:protein_coding:ZNF638	3.936704e+02	-9.806569e-01	1.867430e-11	1.624752e-09
CB	DOWN	ENST00000488126.2	ZNF638-221:retained_intron:ZNF638	3.388028e+02	-8.527100e-01	2.445157e-11	2.008822e-09
CB	DOWN	ENST00000472758.5	ZNF638-215:retained_intron:ZNF638	1.003993e+02	-1.414999e+00	1.372822e-07	2.778498e-06
CB	UP	ENST00000437658.2	ZNF638-206:protein_coding:ZNF638	5.878572e+01	9.734250e-01	3.520737e-07	6.170281e-06
TC	DOWN	ENST00000461991.3	ZNF638-211:protein_coding:ZNF638	1.168945e+02	-9.797541e-01	1.435270e-08	1.220210e-06

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ZNF638

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_117810	chr2	71433165:71433283:71433476:71433535:71434742:71434869	71433476:71433535
exon_skip_137884	chr2	71427350:71427414:71431327:71431428:71433165:71433283	71431327:71431428
exon_skip_138746	chr2	71433228:71433283:71433476:71433535:71434742:71434869	71433476:71433535
exon_skip_139591	chr2	71380513:71380565:71380838:71380903:71396141:71396191	71380838:71380903
exon_skip_141518	chr2	71365429:71365706:71368382:71368528:71369883:71370005	71368382:71368528
exon_skip_149150	chr2	71363153:71363191:71363954:71364252:71365429:71365488	71363954:71364252
exon_skip_151869	chr2	71427354:71427414:71428547:71428651:71431327:71431428	71428547:71428651
exon_skip_163582	chr2	71427358:71427414:71428547:71428651:71431327:71431428	71428547:71428651
exon_skip_18446	chr2	71427354:71427414:71428531:71428651:71431327:71431428	71428531:71428651
exon_skip_195900	chr2	71433171:71433283:71433476:71433535:71434742:71434759	71433476:71433535
exon_skip_20310	chr2	71331782:71331875:71348753:71350271:71355719:71355780	71348753:71350271
exon_skip_212929	chr2	71276645:71276754:71348753:71350271:71355719:71355780	71348753:71350271
exon_skip_218884	chr2	71427350:71427414:71428547:71428651:71431327:71431428	71428547:71428651
exon_skip_219215	chr2	71380513:71380565:71396141:71396191:71398701:71398757	71396141:71396191
exon_skip_236780	chr2	71424650:71424715:71426460:71427414:71428547:71428651	71426460:71427414
exon_skip_254480	chr2	71433228:71433283:71433476:71433535:71434742:71434803	71433476:71433535
exon_skip_256173	chr2	71400112:71400180:71400478:71400518:71401956:71402087	71400478:71400518
exon_skip_260107	chr2	71428547:71428651:71431327:71431428:71433165:71433283	71431327:71431428
exon_skip_262311	chr2	71380516:71380565:71380838:71380903:71396141:71396191	71380838:71380903
exon_skip_274258	chr2	71396141:71396191:71398701:71398772:71399559:71399645	71398701:71398772
exon_skip_294131	chr2	71406128:71406262:71408122:71408247:71418602:71418639	71408122:71408247
exon_skip_31815	chr2	71380516:71380565:71388623:71388723:71393394:71393645	71388623:71388723
exon_skip_48637	chr2	71427350:71427414:71428531:71428651:71431327:71431428	71428531:71428651
exon_skip_49799	chr2	71418602:71418639:71422814:71424038:71424650:71424715	71422814:71424038
exon_skip_58382	chr2	71380513:71380565:71388623:71388723:71393394:71393645	71388623:71388723
exon_skip_59667	chr2	71408122:71408247:71418602:71418639:71422814:71424038	71418602:71418639
exon_skip_61150	chr2	71433171:71433283:71433476:71433535:71434742:71434869	71433476:71433535
exon_skip_82958	chr2	71422814:71424038:71424650:71424715:71426460:71426606	71424650:71424715
exon_skip_82989	chr2	71399559:71399645:71400112:71400180:71400478:71400518	71400112:71400180
exon_skip_90741	chr2	71331782:71331865:71348427:71350271:71355719:71355780	71348427:71350271
exon_skip_91921	chr2	71427354:71427414:71431327:71431428:71433165:71433283	71431327:71431428

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information	Tissue type	Avg(PSIs) in AD	Avg(PSIs) in control	Difference (PSI)	Adj. p-value
exon_skip_218884	Mayo_CB	7.318293e-01	8.532468e-01	-1.214175e-01	6.412659e-08
exon_skip_53284	Mayo_TC	2.482278e-01	3.986842e-01	-1.504564e-01	9.391612e-04

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Open reading frame (ORF) annotation in the exon skipping event for ZNF638

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000264447	71348753	71350271	5CDS-5UTR
ENST00000264447	71363954	71364252	Frame-shift
ENST00000409544	71363954	71364252	Frame-shift
ENST00000264447	71422814	71424038	Frame-shift
ENST00000409544	71422814	71424038	Frame-shift
ENST00000264447	71426460	71427414	Frame-shift
ENST00000409544	71426460	71427414	Frame-shift
ENST00000264447	71368382	71368528	In-frame
ENST00000409544	71368382	71368528	In-frame
ENST00000264447	71400112	71400180	In-frame
ENST00000409544	71400112	71400180	In-frame
ENST00000264447	71408122	71408247	In-frame
ENST00000409544	71408122	71408247	In-frame
ENST00000264447	71428547	71428651	In-frame
ENST00000409544	71428547	71428651	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000409544	71348427	71350271	5CDS-5UTR
ENST00000264447	71348753	71350271	5CDS-5UTR
ENST00000264447	71363954	71364252	Frame-shift
ENST00000409544	71363954	71364252	Frame-shift
ENST00000264447	71400478	71400518	Frame-shift
ENST00000409544	71400478	71400518	Frame-shift
ENST00000264447	71418602	71418639	Frame-shift
ENST00000409544	71418602	71418639	Frame-shift
ENST00000264447	71422814	71424038	Frame-shift
ENST00000409544	71422814	71424038	Frame-shift
ENST00000264447	71426460	71427414	Frame-shift
ENST00000409544	71426460	71427414	Frame-shift
ENST00000264447	71368382	71368528	In-frame
ENST00000409544	71368382	71368528	In-frame
ENST00000264447	71408122	71408247	In-frame
ENST00000409544	71408122	71408247	In-frame
ENST00000264447	71428547	71428651	In-frame
ENST00000409544	71428547	71428651	In-frame
ENST00000264447	71431327	71431428	In-frame
ENST00000409544	71431327	71431428	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000409544	71348427	71350271	5CDS-5UTR
ENST00000264447	71348753	71350271	5CDS-5UTR
ENST00000264447	71363954	71364252	Frame-shift
ENST00000409544	71363954	71364252	Frame-shift
ENST00000264447	71400478	71400518	Frame-shift
ENST00000409544	71400478	71400518	Frame-shift
ENST00000264447	71418602	71418639	Frame-shift
ENST00000409544	71418602	71418639	Frame-shift
ENST00000264447	71422814	71424038	Frame-shift
ENST00000409544	71422814	71424038	Frame-shift
ENST00000264447	71426460	71427414	Frame-shift
ENST00000409544	71426460	71427414	Frame-shift
ENST00000264447	71368382	71368528	In-frame
ENST00000409544	71368382	71368528	In-frame
ENST00000264447	71396141	71396191	In-frame
ENST00000409544	71396141	71396191	In-frame
ENST00000264447	71398701	71398772	In-frame
ENST00000409544	71398701	71398772	In-frame
ENST00000264447	71400112	71400180	In-frame
ENST00000409544	71400112	71400180	In-frame
ENST00000264447	71408122	71408247	In-frame
ENST00000409544	71408122	71408247	In-frame
ENST00000264447	71424650	71424715	In-frame
ENST00000409544	71424650	71424715	In-frame
ENST00000264447	71428547	71428651	In-frame
ENST00000409544	71428547	71428651	In-frame

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Infer the effects of exon skipping event on protein functional features for ZNF638

p-ENSG00000075292_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000264447	6522	1978	71368382	71368528	2311	2456	665	714
ENST00000409544	6838	1978	71368382	71368528	2627	2772	665	714
ENST00000264447	6522	1978	71400112	71400180	2903	2970	863	885
ENST00000409544	6838	1978	71400112	71400180	3219	3286	863	885
ENST00000264447	6522	1978	71408122	71408247	3451	3575	1045	1087
ENST00000409544	6838	1978	71408122	71408247	3767	3891	1045	1087
ENST00000264447	6522	1978	71428547	71428651	5861	5964	1849	1883
ENST00000409544	6838	1978	71428547	71428651	6177	6280	1849	1883

Loci of skipped exons in MSBB 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
ENST00000264447	6522	1978	71368382	71368528	2311	2456	665	714
ENST00000409544	6838	1978	71368382	71368528	2627	2772	665	714
ENST00000264447	6522	1978	71408122	71408247	3451	3575	1045	1087
ENST00000409544	6838	1978	71408122	71408247	3767	3891	1045	1087
ENST00000264447	6522	1978	71428547	71428651	5861	5964	1849	1883
ENST00000409544	6838	1978	71428547	71428651	6177	6280	1849	1883
ENST00000264447	6522	1978	71431327	71431428	5966	6066	1884	1917
ENST00000409544	6838	1978	71431327	71431428	6282	6382	1884	1917

Loci of skipped exons in Mayo 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
ENST00000264447	6522	1978	71368382	71368528	2311	2456	665	714
ENST00000409544	6838	1978	71368382	71368528	2627	2772	665	714
ENST00000264447	6522	1978	71396141	71396191	2693	2742	793	809
ENST00000409544	6838	1978	71396141	71396191	3009	3058	793	809
ENST00000264447	6522	1978	71398701	71398772	2744	2814	810	833
ENST00000409544	6838	1978	71398701	71398772	3060	3130	810	833
ENST00000264447	6522	1978	71400112	71400180	2903	2970	863	885
ENST00000409544	6838	1978	71400112	71400180	3219	3286	863	885
ENST00000264447	6522	1978	71408122	71408247	3451	3575	1045	1087
ENST00000409544	6838	1978	71408122	71408247	3767	3891	1045	1087
ENST00000264447	6522	1978	71424650	71424715	4840	4904	1508	1530
ENST00000409544	6838	1978	71424650	71424715	5156	5220	1508	1530
ENST00000264447	6522	1978	71428547	71428651	5861	5964	1849	1883
ENST00000409544	6838	1978	71428547	71428651	6177	6280	1849	1883

Lost protein functional features of individual exon skipping events in ROSMAP.

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
Q14966	665	714	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	665	714	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	665	714	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	665	714	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	665	714	676	751	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q14966	665	714	676	751	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q14966	863	885	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	863	885	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	863	885	793	918	Alternative sequence	ID=VSP_059342;Note=In isoform 6. AKTGQAKASVAKVNKSTGKSASSVKSVVTVAVKGNKASIKTAKSGGKKSLEAKKTGNVKNKDSNKPVTIPENSEIKTSIEVKATENCAKEAISDAALEATENEPLNKETEEMCVMLVSNLPNKGYS->ESVDQTQQLVPLVRNTARDHDGTPENEGEETVQSALFGFQYDASDHTMAWLGPNTVPEVKEMILQDPQLQTTQLPQTTQAPDITWGMLKKTTYK
Q14966	863	885	793	918	Alternative sequence	ID=VSP_059342;Note=In isoform 6. AKTGQAKASVAKVNKSTGKSASSVKSVVTVAVKGNKASIKTAKSGGKKSLEAKKTGNVKNKDSNKPVTIPENSEIKTSIEVKATENCAKEAISDAALEATENEPLNKETEEMCVMLVSNLPNKGYS->ESVDQTQQLVPLVRNTARDHDGTPENEGEETVQSALFGFQYDASDHTMAWLGPNTVPEVKEMILQDPQLQTTQLPQTTQAPDITWGMLKKTTYK
Q14966	863	885	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	863	885	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	863	885	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	863	885	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1045	1087	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1045	1087	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1045	1087	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1045	1087	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1045	1087	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1045	1087	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1045	1087	1087	1355	Compositional bias	Note=Glu-rich
Q14966	1045	1087	1087	1355	Compositional bias	Note=Glu-rich
Q14966	1849	1883	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1849	1883	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1849	1883	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1849	1883	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1849	1883	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1849	1883	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1849	1883	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1849	1883	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1849	1883	1882	1882	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q14966	1849	1883	1882	1882	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163

Lost protein functional features of individual exon skipping events in MSBB.

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
Q14966	665	714	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	665	714	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	665	714	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	665	714	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	665	714	676	751	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q14966	665	714	676	751	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q14966	1045	1087	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1045	1087	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1045	1087	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1045	1087	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1045	1087	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1045	1087	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1045	1087	1087	1355	Compositional bias	Note=Glu-rich
Q14966	1045	1087	1087	1355	Compositional bias	Note=Glu-rich
Q14966	1849	1883	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1849	1883	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1849	1883	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1849	1883	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1849	1883	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1849	1883	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1849	1883	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1849	1883	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1849	1883	1882	1882	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q14966	1849	1883	1882	1882	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q14966	1884	1917	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1884	1917	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1884	1917	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1884	1917	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1884	1917	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1884	1917	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1884	1917	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1884	1917	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1884	1917	1912	1912	Natural variant	ID=VAR_023072;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11149944;Dbxref=dbSNP:rs11542286,PMID:11149944
Q14966	1884	1917	1912	1912	Natural variant	ID=VAR_023072;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11149944;Dbxref=dbSNP:rs11542286,PMID:11149944

Lost protein functional features of individual exon skipping events in Mayo.

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
Q14966	665	714	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	665	714	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	665	714	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	665	714	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	665	714	676	751	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q14966	665	714	676	751	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q14966	793	809	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	793	809	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	793	809	793	918	Alternative sequence	ID=VSP_059342;Note=In isoform 6. AKTGQAKASVAKVNKSTGKSASSVKSVVTVAVKGNKASIKTAKSGGKKSLEAKKTGNVKNKDSNKPVTIPENSEIKTSIEVKATENCAKEAISDAALEATENEPLNKETEEMCVMLVSNLPNKGYS->ESVDQTQQLVPLVRNTARDHDGTPENEGEETVQSALFGFQYDASDHTMAWLGPNTVPEVKEMILQDPQLQTTQLPQTTQAPDITWGMLKKTTYK
Q14966	793	809	793	918	Alternative sequence	ID=VSP_059342;Note=In isoform 6. AKTGQAKASVAKVNKSTGKSASSVKSVVTVAVKGNKASIKTAKSGGKKSLEAKKTGNVKNKDSNKPVTIPENSEIKTSIEVKATENCAKEAISDAALEATENEPLNKETEEMCVMLVSNLPNKGYS->ESVDQTQQLVPLVRNTARDHDGTPENEGEETVQSALFGFQYDASDHTMAWLGPNTVPEVKEMILQDPQLQTTQLPQTTQAPDITWGMLKKTTYK
Q14966	793	809	793	814	Alternative sequence	ID=VSP_014802;Note=In isoform 2. AKTGQAKASVAKVNKSTGKSAS->GLLPTGGGNNYPQIVLAPGLCH;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	793	809	793	814	Alternative sequence	ID=VSP_014802;Note=In isoform 2. AKTGQAKASVAKVNKSTGKSAS->GLLPTGGGNNYPQIVLAPGLCH;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	793	809	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	793	809	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	793	809	801	801	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14966	793	809	801	801	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14966	810	833	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	810	833	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	810	833	793	918	Alternative sequence	ID=VSP_059342;Note=In isoform 6. AKTGQAKASVAKVNKSTGKSASSVKSVVTVAVKGNKASIKTAKSGGKKSLEAKKTGNVKNKDSNKPVTIPENSEIKTSIEVKATENCAKEAISDAALEATENEPLNKETEEMCVMLVSNLPNKGYS->ESVDQTQQLVPLVRNTARDHDGTPENEGEETVQSALFGFQYDASDHTMAWLGPNTVPEVKEMILQDPQLQTTQLPQTTQAPDITWGMLKKTTYK
Q14966	810	833	793	918	Alternative sequence	ID=VSP_059342;Note=In isoform 6. AKTGQAKASVAKVNKSTGKSASSVKSVVTVAVKGNKASIKTAKSGGKKSLEAKKTGNVKNKDSNKPVTIPENSEIKTSIEVKATENCAKEAISDAALEATENEPLNKETEEMCVMLVSNLPNKGYS->ESVDQTQQLVPLVRNTARDHDGTPENEGEETVQSALFGFQYDASDHTMAWLGPNTVPEVKEMILQDPQLQTTQLPQTTQAPDITWGMLKKTTYK
Q14966	810	833	793	814	Alternative sequence	ID=VSP_014802;Note=In isoform 2. AKTGQAKASVAKVNKSTGKSAS->GLLPTGGGNNYPQIVLAPGLCH;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	810	833	793	814	Alternative sequence	ID=VSP_014802;Note=In isoform 2. AKTGQAKASVAKVNKSTGKSAS->GLLPTGGGNNYPQIVLAPGLCH;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	810	833	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	810	833	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	810	833	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	810	833	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	863	885	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	863	885	1	903	Alternative sequence	ID=VSP_014801;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11149944;Dbxref=PMID:11149944
Q14966	863	885	793	918	Alternative sequence	ID=VSP_059342;Note=In isoform 6. AKTGQAKASVAKVNKSTGKSASSVKSVVTVAVKGNKASIKTAKSGGKKSLEAKKTGNVKNKDSNKPVTIPENSEIKTSIEVKATENCAKEAISDAALEATENEPLNKETEEMCVMLVSNLPNKGYS->ESVDQTQQLVPLVRNTARDHDGTPENEGEETVQSALFGFQYDASDHTMAWLGPNTVPEVKEMILQDPQLQTTQLPQTTQAPDITWGMLKKTTYK
Q14966	863	885	793	918	Alternative sequence	ID=VSP_059342;Note=In isoform 6. AKTGQAKASVAKVNKSTGKSASSVKSVVTVAVKGNKASIKTAKSGGKKSLEAKKTGNVKNKDSNKPVTIPENSEIKTSIEVKATENCAKEAISDAALEATENEPLNKETEEMCVMLVSNLPNKGYS->ESVDQTQQLVPLVRNTARDHDGTPENEGEETVQSALFGFQYDASDHTMAWLGPNTVPEVKEMILQDPQLQTTQLPQTTQAPDITWGMLKKTTYK
Q14966	863	885	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	863	885	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	863	885	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	863	885	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1045	1087	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1045	1087	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1045	1087	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1045	1087	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1045	1087	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1045	1087	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1045	1087	1087	1355	Compositional bias	Note=Glu-rich
Q14966	1045	1087	1087	1355	Compositional bias	Note=Glu-rich
Q14966	1508	1530	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1508	1530	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1508	1530	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1508	1530	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1508	1530	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1508	1530	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1508	1530	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1508	1530	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1849	1883	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1849	1883	815	1978	Alternative sequence	ID=VSP_014803;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q14966	1849	1883	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1849	1883	919	1978	Alternative sequence	ID=VSP_059343;Note=In isoform 6. Missing
Q14966	1849	1883	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1849	1883	1140	1978	Alternative sequence	ID=VSP_014805;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q14966	1849	1883	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1849	1883	1	1978	Chain	ID=PRO_0000082011;Note=Zinc finger protein 638
Q14966	1849	1883	1882	1882	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q14966	1849	1883	1882	1882	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163

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3'-UTR located exon skipping events that lost miRNA binding sites in ZNF638

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for ZNF638

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for ZNF638

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF638

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
DLPFC	exon_skip_137884	rs13406110	chr2:71458399	3.994029e-04	2.704396e-02

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Correlation with RNA binding proteins (RBPs) for ZNF638

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	HNRNPA2B1	exon_skip_260842	4.399896e-01	8.335379e-08
CB	HNRNPDL	exon_skip_260842	-4.084811e-01	7.941643e-07
CB	RBM45	exon_skip_260842	-4.290694e-01	1.868704e-07
CB	RBM23	exon_skip_260842	4.382207e-01	9.518286e-08
CB	RBM4	exon_skip_260842	5.714490e-01	3.719893e-13
CB	HNRNPA2B1	exon_skip_20310	4.397072e-01	1.852303e-07
CB	RBM23	exon_skip_20310	4.387218e-01	1.986993e-07
CB	RBM4	exon_skip_20310	4.611407e-01	3.804449e-08
CB	TARDBP	exon_skip_48637	-4.351768e-01	9.904688e-09
CB	CNOT4	exon_skip_48637	-4.095090e-01	8.326496e-08
CB	FUBP1	exon_skip_48637	-4.654068e-01	6.362785e-10
CB	PTBP1	exon_skip_48637	-4.376695e-01	7.977655e-09
CB	TARDBP	exon_skip_218884	-4.989108e-01	2.183330e-11
CB	CNOT4	exon_skip_218884	-5.260480e-01	1.073135e-12
CB	TRA2A	exon_skip_218884	-5.573611e-01	2.337478e-14
CB	NUP42	exon_skip_218884	4.764024e-01	2.189560e-10
CB	FUBP1	exon_skip_138746	-4.270313e-01	1.984502e-08
CB	NUP42	exon_skip_138746	5.326517e-01	4.946675e-13
DLPFC	TARDBP	exon_skip_48637	-4.523506e-01	3.245313e-14
DLPFC	ELAVL4	exon_skip_48637	-4.634240e-01	6.294533e-15
DLPFC	HNRNPK	exon_skip_48637	-4.487578e-01	5.456043e-14
DLPFC	PCBP2	exon_skip_48637	-4.907731e-01	8.421324e-17
DLPFC	KHDRBS3	exon_skip_48637	-4.575995e-01	1.502565e-14
DLPFC	RBM24	exon_skip_48637	-4.452832e-01	8.965428e-14
DLPFC	HNRNPA0	exon_skip_48637	-4.514358e-01	3.706462e-14
DLPFC	NUP42	exon_skip_48637	-4.165638e-01	4.408094e-12
DLPFC	RALYL	exon_skip_48637	-4.514867e-01	3.679178e-14
DLPFC	PABPC1	exon_skip_48637	-4.496733e-01	4.782307e-14
DLPFC	SRSF9	exon_skip_48637	-4.684353e-01	2.938040e-15
DLPFC	ZCRB1	exon_skip_48637	-4.186531e-01	3.361299e-12
HCC	SRSF5	exon_skip_260842	-4.404004e-01	1.150735e-13
HCC	PCBP4	exon_skip_20310	-4.100494e-01	6.966136e-12
HCC	SRSF5	exon_skip_20310	-4.302869e-01	4.727984e-13
IFG	RBMS2	exon_skip_260842	5.228919e-01	5.135215e-03
IFG	CPEB2	exon_skip_260842	4.257092e-01	2.683404e-02
PCC	PCBP4	exon_skip_20310	-4.447656e-01	1.025959e-10
PCC	SRSF5	exon_skip_20310	-4.001936e-01	8.861256e-09
PG	TARDBP	exon_skip_260842	-4.003588e-01	3.848234e-07
PG	ZNF638	exon_skip_260842	-4.145847e-01	1.331559e-07
PG	SRSF11	exon_skip_260842	-4.385102e-01	1.993124e-08
PG	ANKHD1	exon_skip_260842	-4.481761e-01	8.867429e-09
PG	HNRNPA0	exon_skip_260842	-4.034031e-01	3.079087e-07
PG	PABPC4	exon_skip_260842	-4.350265e-01	2.652407e-08

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RelatedDrugs for ZNF638

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for ZNF638

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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