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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:C6orf48-GNB5 (FusionGDB2 ID:HG50854TG10681)

Fusion Gene Summary for C6orf48-GNB5

check button Fusion gene summary
Fusion gene informationFusion gene name: C6orf48-GNB5
Fusion gene ID: hg50854tg10681
HgeneTgene
Gene symbol

C6orf48

GNB5

Gene ID

50854

10681

Gene namesmall nucleolar RNA host gene 32G protein subunit beta 5
SynonymsC6orf48|D6S57|G8GB5|IDDCA|LADCI
Cytomap('C6orf48')('GNB5')

6p21.33

15q21.2

Type of genencRNAprotein-coding
Descriptionprotein G8guanine nucleotide-binding protein subunit beta-5G protein, beta subunit 5Lgbeta5guanine nucleotide binding protein (G protein), beta 5guanine nucleotide-binding protein, beta subunit 5Ltransducin beta chain 5
Modification date2020031320200313
UniProtAcc.

O14775

Ensembl transtripts involved in fusion geneENST00000547624, ENST00000550685, 
ENST00000375633, ENST00000375635, 
ENST00000375638, ENST00000375639, 
ENST00000375640, ENST00000375641, 
ENST00000375642, ENST00000383383, 
ENST00000383384, ENST00000383385, 
ENST00000395788, ENST00000395789, 
ENST00000400034, ENST00000400035, 
ENST00000400037, ENST00000400038, 
ENST00000400039, ENST00000414536, 
ENST00000413638, ENST00000414434, 
ENST00000416886, ENST00000421039, 
ENST00000421605, ENST00000423640, 
ENST00000423916, ENST00000424962, 
ENST00000426843, ENST00000430690, 
ENST00000433697, ENST00000433752, 
ENST00000435938, ENST00000436205, 
ENST00000436495, ENST00000436558, 
ENST00000439865, ENST00000439907, 
ENST00000440361, ENST00000443974, 
ENST00000444192, ENST00000444331, 
ENST00000444974, ENST00000450610, 
ENST00000456268, ENST00000456690, 
ENST00000458514, ENST00000549426, 
ENST00000550200, ENST00000550492, 
ENST00000551797, ENST00000551957, 
ENST00000552514, 
Fusion gene scores* DoF score12 X 23 X 6=16565 X 4 X 3=60
# samples 215
** MAII scorelog2(21/1656*10)=-2.9792414398332
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C6orf48 [Title/Abstract] AND GNB5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC6orf48(3098868)-GNB5(52446273), # samples:1
C6orf48(31805212)-GNB5(52446273), # samples:1
Anticipated loss of major functional domain due to fusion event.C6orf48-GNB5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
C6orf48-GNB5 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneGNB5

GO:0007212

dopamine receptor signaling pathway

27677260

TgeneGNB5

GO:0043547

positive regulation of GTPase activity

10521509

TgeneGNB5

GO:1901386

negative regulation of voltage-gated calcium channel activity

11007869|12606627



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-DD-A115-01AC6orf48chr6

31805212

-GNB5chr15

52446273

-
ChimerDB4LIHCTCGA-DD-A115-01AC6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-


Top

Fusion Gene ORF analysis for C6orf48-GNB5

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000547624ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-3CDSENST00000547624ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-3CDSENST00000547624ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-3CDSENST00000550685ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-3CDSENST00000550685ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-3CDSENST00000550685ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-intronENST00000547624ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-intronENST00000547624ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-intronENST00000550685ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
3UTR-intronENST00000550685ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000375633ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375633ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375635ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375635ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375638ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375638ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375639ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375639ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375640ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375640ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375641ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375641ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375642ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000375642ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000383383ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000383383ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000383384ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000383384ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000383385ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000383385ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000395788ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000395788ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000395789ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000395789ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
5CDS-intronENST00000400034ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400034ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400035ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400035ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400037ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400037ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400038ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400038ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400039ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000400039ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000414536ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
5CDS-intronENST00000414536ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000375633ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375633ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375633ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375635ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375635ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375635ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375638ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375638ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375638ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375639ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375639ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375639ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375640ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375640ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375640ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375641ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375641ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375641ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375642ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375642ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000375642ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000383383ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000383383ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000383383ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000383384ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000383384ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000383384ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000383385ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000383385ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000383385ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000395788ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000395788ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000395788ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000395789ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000395789ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000395789ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
Frame-shiftENST00000400034ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400034ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400034ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400035ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400035ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400035ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400037ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400037ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400037ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400038ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400038ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400038ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400039ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400039ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000400039ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000414536ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000414536ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
Frame-shiftENST00000414536ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375633ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375633ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375633ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375635ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375635ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375635ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375638ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375638ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375638ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375639ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375639ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375639ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375640ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375640ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375640ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375641ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375641ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375641ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375642ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375642ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000375642ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000383383ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000383383ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000383383ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000383384ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000383384ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000383384ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000383385ENST00000261837C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000383385ENST00000358784C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000383385ENST00000396335C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-3CDSENST00000395788ENST00000261837C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000395788ENST00000358784C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-3CDSENST00000395788ENST00000396335C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
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31805212

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31805212

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31805212

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31805212

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31805212

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31805212

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52446273

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intron-3CDSENST00000456268ENST00000261837C6orf48chr6

31805212

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intron-3CDSENST00000456268ENST00000261837C6orf48chr6_qbl_hap6

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intron-3CDSENST00000456268ENST00000358784C6orf48chr6

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intron-3CDSENST00000456268ENST00000358784C6orf48chr6_qbl_hap6

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intron-3CDSENST00000456268ENST00000396335C6orf48chr6

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intron-3CDSENST00000456268ENST00000396335C6orf48chr6_qbl_hap6

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intron-3CDSENST00000456690ENST00000261837C6orf48chr6

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intron-3CDSENST00000456690ENST00000261837C6orf48chr6_qbl_hap6

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intron-3CDSENST00000456690ENST00000358784C6orf48chr6

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intron-3CDSENST00000456690ENST00000358784C6orf48chr6_qbl_hap6

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intron-3CDSENST00000456690ENST00000396335C6orf48chr6

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intron-3CDSENST00000456690ENST00000396335C6orf48chr6_qbl_hap6

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intron-3CDSENST00000458514ENST00000261837C6orf48chr6

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intron-3CDSENST00000458514ENST00000261837C6orf48chr6_qbl_hap6

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intron-3CDSENST00000458514ENST00000358784C6orf48chr6

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intron-3CDSENST00000458514ENST00000358784C6orf48chr6_qbl_hap6

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intron-3CDSENST00000458514ENST00000396335C6orf48chr6

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intron-3CDSENST00000458514ENST00000396335C6orf48chr6_qbl_hap6

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intron-3CDSENST00000547624ENST00000261837C6orf48chr6

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intron-3CDSENST00000547624ENST00000358784C6orf48chr6

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intron-3CDSENST00000547624ENST00000396335C6orf48chr6

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intron-3CDSENST00000549426ENST00000261837C6orf48chr6

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intron-3CDSENST00000549426ENST00000261837C6orf48chr6_qbl_hap6

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intron-3CDSENST00000549426ENST00000358784C6orf48chr6

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intron-3CDSENST00000549426ENST00000358784C6orf48chr6_qbl_hap6

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intron-3CDSENST00000549426ENST00000396335C6orf48chr6

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intron-3CDSENST00000549426ENST00000396335C6orf48chr6_qbl_hap6

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intron-3CDSENST00000550200ENST00000261837C6orf48chr6

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intron-3CDSENST00000550200ENST00000261837C6orf48chr6_qbl_hap6

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intron-3CDSENST00000550200ENST00000358784C6orf48chr6

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intron-3CDSENST00000550200ENST00000358784C6orf48chr6_qbl_hap6

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intron-3CDSENST00000550200ENST00000396335C6orf48chr6

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intron-3CDSENST00000550200ENST00000396335C6orf48chr6_qbl_hap6

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intron-3CDSENST00000550492ENST00000261837C6orf48chr6

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intron-3CDSENST00000550492ENST00000261837C6orf48chr6_qbl_hap6

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intron-3CDSENST00000550492ENST00000358784C6orf48chr6

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intron-3CDSENST00000550492ENST00000358784C6orf48chr6_qbl_hap6

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intron-3CDSENST00000550492ENST00000396335C6orf48chr6

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intron-3CDSENST00000550492ENST00000396335C6orf48chr6_qbl_hap6

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intron-3CDSENST00000550685ENST00000358784C6orf48chr6

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intron-3CDSENST00000550685ENST00000396335C6orf48chr6

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intron-3CDSENST00000551797ENST00000261837C6orf48chr6_qbl_hap6

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intron-3CDSENST00000551797ENST00000396335C6orf48chr6_qbl_hap6

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intron-3CDSENST00000551957ENST00000261837C6orf48chr6_qbl_hap6

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intron-3CDSENST00000551957ENST00000358784C6orf48chr6

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intron-3CDSENST00000551957ENST00000358784C6orf48chr6_qbl_hap6

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intron-3CDSENST00000551957ENST00000396335C6orf48chr6

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intron-3CDSENST00000551957ENST00000396335C6orf48chr6_qbl_hap6

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intron-3CDSENST00000552514ENST00000261837C6orf48chr6

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intron-3CDSENST00000552514ENST00000396335C6orf48chr6

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intron-3CDSENST00000552514ENST00000396335C6orf48chr6_qbl_hap6

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intron-intronENST00000375633ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000375633ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000375635ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000375635ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000375638ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000375638ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000375639ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000375639ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000375640ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000375640ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000375641ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000375641ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000375642ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000375642ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000383383ENST00000559348C6orf48chr6

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intron-intronENST00000383384ENST00000559348C6orf48chr6

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intron-intronENST00000383384ENST00000560116C6orf48chr6

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intron-intronENST00000383385ENST00000559348C6orf48chr6

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intron-intronENST00000383385ENST00000560116C6orf48chr6

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intron-intronENST00000395788ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000395788ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000395789ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000395789ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000400034ENST00000559348C6orf48chr6

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intron-intronENST00000400034ENST00000560116C6orf48chr6

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intron-intronENST00000400035ENST00000559348C6orf48chr6

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intron-intronENST00000400035ENST00000560116C6orf48chr6

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intron-intronENST00000400037ENST00000559348C6orf48chr6

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intron-intronENST00000400037ENST00000560116C6orf48chr6

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intron-intronENST00000400038ENST00000559348C6orf48chr6

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intron-intronENST00000400039ENST00000560116C6orf48chr6

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intron-intronENST00000413638ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000413638ENST00000560116C6orf48chr6

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intron-intronENST00000413638ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000414434ENST00000559348C6orf48chr6

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intron-intronENST00000414434ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000414434ENST00000560116C6orf48chr6

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intron-intronENST00000414434ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000414536ENST00000559348C6orf48chr6

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intron-intronENST00000414536ENST00000560116C6orf48chr6

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intron-intronENST00000416886ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000416886ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000416886ENST00000560116C6orf48chr6

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intron-intronENST00000416886ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000421039ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000421039ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000421039ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000421039ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000421605ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000421605ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000421605ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000421605ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000423640ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000423640ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000423640ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000423640ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000423916ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000423916ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000423916ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000423916ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000424962ENST00000559348C6orf48chr6

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intron-intronENST00000424962ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000424962ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000424962ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000426843ENST00000559348C6orf48chr6

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intron-intronENST00000426843ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000426843ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000426843ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000430690ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000430690ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000430690ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000430690ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000433697ENST00000559348C6orf48chr6

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intron-intronENST00000433697ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000433697ENST00000560116C6orf48chr6

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intron-intronENST00000433697ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000433752ENST00000559348C6orf48chr6

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intron-intronENST00000433752ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000433752ENST00000560116C6orf48chr6

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intron-intronENST00000433752ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000435938ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000435938ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000435938ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000435938ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000436205ENST00000559348C6orf48chr6

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intron-intronENST00000436205ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000436205ENST00000560116C6orf48chr6

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intron-intronENST00000436205ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000436495ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000436495ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000436495ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000436495ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000436558ENST00000559348C6orf48chr6

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intron-intronENST00000436558ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000436558ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000436558ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000439865ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000439865ENST00000559348C6orf48chr6_qbl_hap6

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intron-intronENST00000439865ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000439865ENST00000560116C6orf48chr6_qbl_hap6

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intron-intronENST00000439907ENST00000559348C6orf48chr6

31805212

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intron-intronENST00000439907ENST00000559348C6orf48chr6_qbl_hap6

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52446273

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intron-intronENST00000439907ENST00000560116C6orf48chr6

31805212

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intron-intronENST00000439907ENST00000560116C6orf48chr6_qbl_hap6

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52446273

-
intron-intronENST00000440361ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000440361ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000440361ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000440361ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000443974ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000443974ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000443974ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000443974ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000444192ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000444192ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000444192ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000444192ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000444331ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000444331ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000444331ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000444331ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000444974ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000444974ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000444974ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000444974ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000450610ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000450610ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000450610ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000450610ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000456268ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000456268ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000456268ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000456268ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000456690ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000456690ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000456690ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000456690ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000458514ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000458514ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000458514ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000458514ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000547624ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000547624ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000549426ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000549426ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000549426ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000549426ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000550200ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000550200ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000550200ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000550200ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000550492ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000550492ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000550492ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000550492ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000550685ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000550685ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000551797ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000551797ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000551797ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000551797ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000551957ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000551957ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000551957ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000551957ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000552514ENST00000559348C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000552514ENST00000559348C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-
intron-intronENST00000552514ENST00000560116C6orf48chr6

31805212

-GNB5chr15

52446273

-
intron-intronENST00000552514ENST00000560116C6orf48chr6_qbl_hap6

3098868

+GNB5chr15

52446273

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for C6orf48-GNB5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for C6orf48-GNB5


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:3098868/:52446273)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.GNB5

O14775

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity). {ECO:0000250|UniProtKB:A1L271, ECO:0000269|PubMed:27677260, ECO:0000305}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for C6orf48-GNB5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for C6orf48-GNB5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for C6orf48-GNB5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for C6orf48-GNB5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4310678LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4310682INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human