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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:KDM5B-KLHL12 (FusionGDB2 ID:41671)

Fusion Gene Summary for KDM5B-KLHL12

Fusion gene summary

Fusion gene information	Fusion gene name: KDM5B-KLHL12
	Fusion gene ID: 41671
		Hgene	Tgene
	Gene symbol	KDM5B	KLHL12
	Gene ID	10765	59349
	Gene name	lysine demethylase 5B	kelch like family member 12
	Synonyms	CT31\|JARID1B\|MRT65\|PLU-1\|PLU1\|PPP1R98\|PUT1\|RBBP2H1A\|RBP2-H1	C3IP1\|DKIR
	Cytomap	1q32.1	1q32.1
	Type of gene	protein-coding	protein-coding
	Description	lysine-specific demethylase 5Bcancer/testis antigen 31histone demethylase JARID1Bjumonji, AT rich interactive domain 1Bjumonji/ARID domain-containing protein 1Blysine (K)-specific demethylase 5Bprotein phosphatase 1, regulatory subunit 98putative D	kelch-like protein 12CUL3-interacting protein 1DKIR homologkelch-like protein C3IP1
	Modification date	20200320	20200327
	UniProtAcc	Q9UGL1	Q53G59
	Ensembl transtripts involved in fusion gene	ENST00000367265, ENST00000367264, ENST00000456180,	ENST00000367261, ENST00000367259, ENST00000435533,
Fusion gene scores	* DoF score	14 X 13 X 9=1638	5 X 5 X 3=75
	# samples	17	5
	** MAII score	log2(17/1638*10)=-3.26832870550331 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: KDM5B [Title/Abstract] AND KLHL12 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	KDM5B(202742246)-KLHL12(202880331), # samples:1
Anticipated loss of major functional domain due to fusion event.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	KDM5B	GO:0034720	histone H3-K4 demethylation	20228790
Tgene	KLHL12	GO:0006513	protein monoubiquitination	22358839\|27716508
Tgene	KLHL12	GO:0006888	ER to Golgi vesicle-mediated transport	22358839

Fusion gene breakpoints across KDM5B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across KLHL12 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	STAD	TCGA-CG-5717-01A	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-

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Fusion Gene ORF analysis for KDM5B-KLHL12

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
In-frame	ENST00000367265	ENST00000367261	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-
5CDS-intron	ENST00000367265	ENST00000367259	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-
5CDS-intron	ENST00000367265	ENST00000435533	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-
In-frame	ENST00000367264	ENST00000367261	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-
5CDS-intron	ENST00000367264	ENST00000367259	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-
5CDS-intron	ENST00000367264	ENST00000435533	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-
intron-3CDS	ENST00000456180	ENST00000367261	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-
intron-intron	ENST00000456180	ENST00000367259	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-
intron-intron	ENST00000456180	ENST00000435533	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000367265	KDM5B	chr1	202742246	-	ENST00000367261	KLHL12	chr1	202880331	-	4314	1741	934	2880	648
ENST00000367264	KDM5B	chr1	202742246	-	ENST00000367261	KLHL12	chr1	202880331	-	3262	689	113	1828	571

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000367265	ENST00000367261	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-	0.001224299	0.99877566
ENST00000367264	ENST00000367261	KDM5B	chr1	202742246	-	KLHL12	chr1	202880331	-	0.001006995	0.998993

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Fusion Genomic Features for KDM5B-KLHL12

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for KDM5B-KLHL12

Go to
FGviewer for the breakpoints of chr1:202742246-chr1:202880331
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
KDM5B Q9UGL1	KLHL12 Q53G59
FUNCTION: Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:24952722, PubMed:27214403, PubMed:28262558). Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated, dimethylated and monomethylated H3 'Lys-4'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5 (PubMed:24952722). In contrast, may act as a tumor suppressor for melanoma. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity). {ECO:0000250\|UniProtKB:Q80Y84, ECO:0000269\|PubMed:12657635, ECO:0000269\|PubMed:16645588, ECO:0000269\|PubMed:17320161, ECO:0000269\|PubMed:17363312, ECO:0000269\|PubMed:24952722, ECO:0000269\|PubMed:26645689, ECO:0000269\|PubMed:26741168, ECO:0000269\|PubMed:27214403, ECO:0000269\|PubMed:28262558}.	FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508). {ECO:0000269\|PubMed:16547521, ECO:0000269\|PubMed:18303015, ECO:0000269\|PubMed:20100572, ECO:0000269\|PubMed:22358839, ECO:0000269\|PubMed:27565346, ECO:0000269\|PubMed:27716508}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367264

32_73

192.0

1581.0

Domain

JmjN

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367264

97_187

192.0

1581.0

Domain

ARID

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367265

32_73

192.0

1545.0

Domain

JmjN

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367265

97_187

192.0

1545.0

Domain

ARID

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000367261

282_329

189.0

569.0

Repeat

Note=Kelch 1

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000367261

331_379

189.0

569.0

Repeat

Note=Kelch 2

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000367261

380_426

189.0

569.0

Repeat

Note=Kelch 3

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000367261

427_473

189.0

569.0

Repeat

Note=Kelch 4

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000367261

475_520

189.0

569.0

Repeat

Note=Kelch 5

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000367261

522_567

189.0

569.0

Repeat

Note=Kelch 6

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000435533

282_329

227.0

607.0

Repeat

Note=Kelch 1

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000435533

331_379

227.0

607.0

Repeat

Note=Kelch 2

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000435533

380_426

227.0

607.0

Repeat

Note=Kelch 3

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000435533

427_473

227.0

607.0

Repeat

Note=Kelch 4

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000435533

475_520

227.0

607.0

Repeat

Note=Kelch 5

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000435533

522_567

227.0

607.0

Repeat

Note=Kelch 6

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367264

1434_1439

192.0

1581.0

Compositional bias

Note=Poly-Lys

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367265

1434_1439

192.0

1545.0

Compositional bias

Note=Poly-Lys

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367264

453_619

192.0

1581.0

Domain

JmjC

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367265

453_619

192.0

1545.0

Domain

JmjC

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367264

1176_1224

192.0

1581.0

Zinc finger

PHD-type 2

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367264

1484_1538

192.0

1581.0

Zinc finger

PHD-type 3

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367264

309_359

192.0

1581.0

Zinc finger

PHD-type 1

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367264

692_744

192.0

1581.0

Zinc finger

C5HC2

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367265

1176_1224

192.0

1545.0

Zinc finger

PHD-type 2

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367265

1484_1538

192.0

1545.0

Zinc finger

PHD-type 3

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367265

309_359

192.0

1545.0

Zinc finger

PHD-type 1

Hgene

KDM5B

chr1:202742246

chr1:202880331

ENST00000367265

692_744

192.0

1545.0

Zinc finger

C5HC2

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000367261

135_236

189.0

569.0

Domain

Note=BACK

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000367261

33_100

189.0

569.0

Domain

BTB

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000435533

135_236

227.0

607.0

Domain

Note=BACK

Tgene

KLHL12

chr1:202742246

chr1:202880331

ENST00000435533

33_100

227.0

607.0

Domain

BTB

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Fusion Gene Sequence for KDM5B-KLHL12

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.

>In-frame_ENST00000367265_ENST00000367261_TCGA-CG-5717-01A_KDM5B_chr1_202742246_-_KLHL12_chr1_202880331_length(transcript)=4314nt_BP=1741nt
TTCAGTCTGTTGAAGGATACCCCGTTGTGTATTTCTACCTGTATGTACCAGAGACACCTCAAATTCAAAATGTCCAGAAATGAACACAGT
ATCTTCTTCCCTTGAGTAACTCGCCTTCTGTATATAATTGGGGTGAATGTTCCAGCAATGCCAACGGGCTAGCATCTACTCAGGCAGGTA
CGCCAGACATCTGAATCTTAATACCTCGTCGTCCCCCCTCAATCTGTCACTATGTCCTAATTTTATTTCCTACCTTTGCATCCCTTCCTC
ATAATTATCAGCACCACTGCCTTAATTTAGATCCTATCATTCCTTGTCTGGATTATTTCAAGTCTTTCGCCCCTCTCAAGTCTGACCTCG
TCATAGACTGTTTGTGGATGATTATTTTCCCTGCAACATCTCCACCTCCCAATAGTCTCCATCACTTATTAGCCATGTGAATTATGGCAA
ATTGCTTAACCTACCTATGCCTCACTTTCCTTATTGTAAAGTGGAAATAAGAGTACCTATCTCATAGGGTTGTGTGATTAATCATGCGAT
GCAATTAGAACAGTGCCTAGGATATGAAAGTGCCCCAAAATGTTACGTTATTATTATTATTACTACTATTGCCTTCTCATGAACATGCTA
TGTGTATGTTCAAGCTGTTATCTCTACTGGAAAATCCTTCTCCGTTTCCAATACTCTTTCCAAAACCCCCTCCTGGGTTTTACTGCACCT
ACCATTGTGTACTGACGTGATTGAATGATTGGCTTATGGGACTGATCCTTTCTACCAGACTTAACTTCTTCAGGGCAGGAACTCTGATAC
ATAGTAAATGGTCAATAAAAGTTGGCTCAACTGAAACCCTAAGGATAAACTCCATCCACAGCGGAAGGCGCGGCCCCGCCCGATTCGGGG
GCGGGGCGGGGAGCCGCGCGCGGAGGGTGGGTCGATGGGGGTGGGGTGGGACTCTTTTTCCTCGCCGTGGCGGCGGAGGCGCACGGCGTG
GGCTTGCGGCGAGACGTCGTCGTCGGAGGCTGAAAAAGCCCAAGGTGCTGCCGTTGCCCGTACAACTCGGACTTGCTGTTGCTCGAGCCG
CGTCTGCACGGGTCTCGGACCGAGCGGAGCTCGCAGCCTCGGTCCCGGAGCCCACCTTCGCCTCGCCCTTGCCCAGCCTGCGGTGATGGA
GGCGGCCACCACACTGCACCCAGGCCCGCGCCCGGCGCTGCCCCTCGGGGGCCCGGGCCCGCTGGGCGAGTTCCTGCCTCCACCCGAGTG
CCCGGTCTTCGAACCCAGCTGGGAAGAGTTCGCGGACCCCTTCGCTTTCATCCACAAGATCCGGCCCATAGCCGAGCAGACTGGCATCTG
TAAGGTGCGGCCGCCGCCGGATTGGCAGCCACCATTTGCATGTGATGTTGATAAACTTCATTTTACGCCACGTATCCAGAGACTGAATGA
ATTGGAGGCCCAAACTCGTGTAAAATTGAATTTCTTGGACCAGATTGCAAAGTACTGGGAGTTACAGGGAAGTACTCTGAAAATTCCACA
TGTGGAGAGGAAGATCTTGGACTTATTTCAGCTTAATAAGTTAGTTGCAGAAGAAGGTGGATTTGCAGTTGTTTGCAAGGATAGAAAATG
GACCAAAATTGCTACCAAGATGGGGTTTGCTCCTGGCAAAGCAGTGGGCTCACATATCAGAGGGCATTATGAACGAATTCTCAACCCCTA
CAACTTATTCCTGTCCGGAGACAGCCTAAGGGTGGATTCTGAAGAGCCAGTCTTTGAGGCTGTCATCAACTGGGTGAAGCATGCCAAGAA
AGAGCGGGAAGAATCCTTGCCTAACCTGCTACAGTATGTGCGGATGCCCCTACTAACCCCCAGGTATATCACAGATGTAATAGATGCTGA
GCCTTTCATCCGCTGTAGTTTACAATGCAGGGATCTGGTTGATGAAGCAAAGAAGTTTCATCTGAGGCCTGAACTTCGGAGTCAGATGCA
GGGACCCAGGACAAGGGCTCGCCTAGGAGCCAATGAAGTGCTTTTGGTGGTTGGGGGCTTTGGAAGCCAGCAGTCTCCCATTGATGTGGT
AGAGAAATATGACCCCAAGACTCAGGAGTGGAGCTTTTTGCCAAGCATCACTCGTAAGAGACGTTATGTGGCCTCAGTGTCCCTTCATGA
CCGGATCTACGTCATTGGTGGCTATGATGGCCGTTCCCGCCTTAGTTCAGTGGAATGTCTAGACTACACAGCAGATGAGGATGGGGTCTG
GTATTCTGTGGCCCCTATGAATGTCCGACGAGGTCTTGCTGGAGCCACCACCCTGGGAGATATGATCTATGTCTCTGGAGGCTTTGATGG
AAGCAGGCGTCACACCAGTATGGAGCGCTATGATCCAAACATTGACCAGTGGAGCATGCTGGGAGATATGCAGACAGCCCGGGAAGGTGC
CGGACTCGTAGTGGCCAGTGGAGTGATCTACTGTCTAGGAGGATATGACGGCTTGAATATCTTAAATTCAGTTGAGAAATACGACCCTCA
TACAGGACATTGGACTAATGTTACACCAATGGCCACCAAGCGTTCTGGTGCAGGAGTAGCCCTGCTGAATGACCATATTTATGTGGTGGG
GGGATTTGATGGTACAGCCCACCTTTCTTCCGTTGAAGCATACAACATTCGCACTGATTCCTGGACAACTGTCACCAGTATGACCACTCC
ACGATGCTATGTAGGGGCCACAGTGCTTCGGGGGAGACTCTATGCAATTGCAGGATATGATGGTAATTCCCTGCTAAGTAGCATTGAATG
TTATGACCCTATCATCGACAGCTGGGAAGTCGTGACATCCATGGGAACCCAGCGCTGTGATGCTGGTGTTTGTGTTCTCCGCGAGAAGTG
ACCATTGTTGGAGCACCATCCAGAGCTAGTGACCAGTCCAGTGGACAGTTAGTGGGAGAATCAAAAATCCTTTCCAGAATGTCTGTTTCT
CACTATGTGCACCGGGTGATTACAGGCACCAGTGCAGTGATGATTGTACTTATTTGACACATACTCCCCGTCGTCCTGGTTCTTGTTCCT
GAGAAGGGTGGGTAACAGATATTCCAGGAAAAAGAATGCACATTGAATGGATGTGAGAGACCACATTGCCTCTCCCACTGCTTTGGGGAG
CACTTTCCTGTCATTTCTAACTTACCACATGCTTGGTGTACTATATGTATGTTGTGCCTCATATGTTGCAAAGAACTAAGGTGAGTATAG
CCTACTAGATATGGGCAATATCCAGCCTAGATGATTGGAAAGATACCAGTTTAAGTAAACTTGGTAAAATCCAAGTCTTTTTTTTTTTTT
CCAGGAACAACTACATTTTCTCATATACAGGTAGCTAGGGGCAACACAGTTCCATTCTAGAGGGAAACAAAAGGGAGAGCCCCACAAAAC
TTTGGGGACAAGGGAGAGAGAGACTCATCTGACACTTCTTTTGGAGGTCAGGATTTGTATATCAGAATTGAAGTTAGAATTAAGTGAATT
AAACTGAATTTGATTGTGAGTGAACCTAGAACAGCACTGAAGTATTACATAACCTGGAAGACTGAGAAGGGTATATTATTTGAAGGATCT
TTTTATTTCCCCGAGGTCTTTCGCACTGGAGACAGCATAAAAGAGTGAACAAATGTTGGGATGAGAGAAGATGACATCAATGTGGGAGTT
CAGTATAACTGGGGATAAACTAGAAGAACCTGTGATTTTACAGTCATCTTATTACCTGCCAGGGCTCATCTAGCCATGGCAATGTTTGCC
TTGAATGGGGGTGAAAGCCTTTCTTTGTTGGATCAAATACTACTACACTATTACACTTCCACACTATTTATTTGGGGATGGGCTGGGAGT
GACAGTAGCCTAGTAGTTCAGCTACCTGATTACTGCCCCATTCTTTTAGAAGCACATGTCTGCCAAGGAGTGGTTTGTACTGCTGTGTTT
GGTACATCTAGTCTTTTTTCTGCTATAAGTTTTCCTTACCTGTCCTTTAGTGTAGATTTTATTCATCACAGGACAGAATAATCAAGGACA
ACCAAAATCCTTTTGTTAGTTTCAGTACCTCAGCTATCAACATTTCTGAGCTACCATTCAATGTTCCTCTGTGTCATGGAGTGAAATTCT
TGTTTTGTGGGTATTAGGAGTGTGGGAATGTGATAACCTAAACAACCTTTGCTCTGAAATTCCATTTTTCCCTCTTTCCCTGAGTTGTAT

>In-frame_ENST00000367265_ENST00000367261_TCGA-CG-5717-01A_KDM5B_chr1_202742246_-_KLHL12_chr1_202880331_length(amino acids)=648AA_start in transcript=934_stop in transcript=2880
MGVGWDSFSSPWRRRRTAWACGETSSSEAEKAQGAAVARTTRTCCCSSRVCTGLGPSGARSLGPGAHLRLALAQPAVMEAATTLHPGPRP
ALPLGGPGPLGEFLPPPECPVFEPSWEEFADPFAFIHKIRPIAEQTGICKVRPPPDWQPPFACDVDKLHFTPRIQRLNELEAQTRVKLNF
LDQIAKYWELQGSTLKIPHVERKILDLFQLNKLVAEEGGFAVVCKDRKWTKIATKMGFAPGKAVGSHIRGHYERILNPYNLFLSGDSLRV
DSEEPVFEAVINWVKHAKKEREESLPNLLQYVRMPLLTPRYITDVIDAEPFIRCSLQCRDLVDEAKKFHLRPELRSQMQGPRTRARLGAN
EVLLVVGGFGSQQSPIDVVEKYDPKTQEWSFLPSITRKRRYVASVSLHDRIYVIGGYDGRSRLSSVECLDYTADEDGVWYSVAPMNVRRG
LAGATTLGDMIYVSGGFDGSRRHTSMERYDPNIDQWSMLGDMQTAREGAGLVVASGVIYCLGGYDGLNILNSVEKYDPHTGHWTNVTPMA
TKRSGAGVALLNDHIYVVGGFDGTAHLSSVEAYNIRTDSWTTVTSMTTPRCYVGATVLRGRLYAIAGYDGNSLLSSIECYDPIIDSWEVV

--------------------------------------------------------------
>In-frame_ENST00000367264_ENST00000367261_TCGA-CG-5717-01A_KDM5B_chr1_202742246_-_KLHL12_chr1_202880331_length(transcript)=3262nt_BP=689nt
CAACTCGGACTTGCTGTTGCTCGAGCCGCGTCTGCACGGGTCTCGGACCGAGCGGAGCTCGCAGCCTCGGTCCCGGAGCCCACCTTCGCC
TCGCCCTTGCCCAGCCTGCGGTGATGGAGGCGGCCACCACACTGCACCCAGGCCCGCGCCCGGCGCTGCCCCTCGGGGGCCCGGGCCCGC
TGGGCGAGTTCCTGCCTCCACCCGAGTGCCCGGTCTTCGAACCCAGCTGGGAAGAGTTCGCGGACCCCTTCGCTTTCATCCACAAGATCC
GGCCCATAGCCGAGCAGACTGGCATCTGTAAGGTGCGGCCGCCGCCGGATTGGCAGCCACCATTTGCATGTGATGTTGATAAACTTCATT
TTACGCCACGTATCCAGAGACTGAATGAATTGGAGGCCCAAACTCGTGTAAAATTGAATTTCTTGGACCAGATTGCAAAGTACTGGGAGT
TACAGGGAAGTACTCTGAAAATTCCACATGTGGAGAGGAAGATCTTGGACTTATTTCAGCTTAATAAGTTAGTTGCAGAAGAAGGTGGAT
TTGCAGTTGTTTGCAAGGATAGAAAATGGACCAAAATTGCTACCAAGATGGGGTTTGCTCCTGGCAAAGCAGTGGGCTCACATATCAGAG
GGCATTATGAACGAATTCTCAACCCCTACAACTTATTCCTGTCCGGAGACAGCCTAAGGGTGGATTCTGAAGAGCCAGTCTTTGAGGCTG
TCATCAACTGGGTGAAGCATGCCAAGAAAGAGCGGGAAGAATCCTTGCCTAACCTGCTACAGTATGTGCGGATGCCCCTACTAACCCCCA
GGTATATCACAGATGTAATAGATGCTGAGCCTTTCATCCGCTGTAGTTTACAATGCAGGGATCTGGTTGATGAAGCAAAGAAGTTTCATC
TGAGGCCTGAACTTCGGAGTCAGATGCAGGGACCCAGGACAAGGGCTCGCCTAGGAGCCAATGAAGTGCTTTTGGTGGTTGGGGGCTTTG
GAAGCCAGCAGTCTCCCATTGATGTGGTAGAGAAATATGACCCCAAGACTCAGGAGTGGAGCTTTTTGCCAAGCATCACTCGTAAGAGAC
GTTATGTGGCCTCAGTGTCCCTTCATGACCGGATCTACGTCATTGGTGGCTATGATGGCCGTTCCCGCCTTAGTTCAGTGGAATGTCTAG
ACTACACAGCAGATGAGGATGGGGTCTGGTATTCTGTGGCCCCTATGAATGTCCGACGAGGTCTTGCTGGAGCCACCACCCTGGGAGATA
TGATCTATGTCTCTGGAGGCTTTGATGGAAGCAGGCGTCACACCAGTATGGAGCGCTATGATCCAAACATTGACCAGTGGAGCATGCTGG
GAGATATGCAGACAGCCCGGGAAGGTGCCGGACTCGTAGTGGCCAGTGGAGTGATCTACTGTCTAGGAGGATATGACGGCTTGAATATCT
TAAATTCAGTTGAGAAATACGACCCTCATACAGGACATTGGACTAATGTTACACCAATGGCCACCAAGCGTTCTGGTGCAGGAGTAGCCC
TGCTGAATGACCATATTTATGTGGTGGGGGGATTTGATGGTACAGCCCACCTTTCTTCCGTTGAAGCATACAACATTCGCACTGATTCCT
GGACAACTGTCACCAGTATGACCACTCCACGATGCTATGTAGGGGCCACAGTGCTTCGGGGGAGACTCTATGCAATTGCAGGATATGATG
GTAATTCCCTGCTAAGTAGCATTGAATGTTATGACCCTATCATCGACAGCTGGGAAGTCGTGACATCCATGGGAACCCAGCGCTGTGATG
CTGGTGTTTGTGTTCTCCGCGAGAAGTGACCATTGTTGGAGCACCATCCAGAGCTAGTGACCAGTCCAGTGGACAGTTAGTGGGAGAATC
AAAAATCCTTTCCAGAATGTCTGTTTCTCACTATGTGCACCGGGTGATTACAGGCACCAGTGCAGTGATGATTGTACTTATTTGACACAT
ACTCCCCGTCGTCCTGGTTCTTGTTCCTGAGAAGGGTGGGTAACAGATATTCCAGGAAAAAGAATGCACATTGAATGGATGTGAGAGACC
ACATTGCCTCTCCCACTGCTTTGGGGAGCACTTTCCTGTCATTTCTAACTTACCACATGCTTGGTGTACTATATGTATGTTGTGCCTCAT
ATGTTGCAAAGAACTAAGGTGAGTATAGCCTACTAGATATGGGCAATATCCAGCCTAGATGATTGGAAAGATACCAGTTTAAGTAAACTT
GGTAAAATCCAAGTCTTTTTTTTTTTTTCCAGGAACAACTACATTTTCTCATATACAGGTAGCTAGGGGCAACACAGTTCCATTCTAGAG
GGAAACAAAAGGGAGAGCCCCACAAAACTTTGGGGACAAGGGAGAGAGAGACTCATCTGACACTTCTTTTGGAGGTCAGGATTTGTATAT
CAGAATTGAAGTTAGAATTAAGTGAATTAAACTGAATTTGATTGTGAGTGAACCTAGAACAGCACTGAAGTATTACATAACCTGGAAGAC
TGAGAAGGGTATATTATTTGAAGGATCTTTTTATTTCCCCGAGGTCTTTCGCACTGGAGACAGCATAAAAGAGTGAACAAATGTTGGGAT
GAGAGAAGATGACATCAATGTGGGAGTTCAGTATAACTGGGGATAAACTAGAAGAACCTGTGATTTTACAGTCATCTTATTACCTGCCAG
GGCTCATCTAGCCATGGCAATGTTTGCCTTGAATGGGGGTGAAAGCCTTTCTTTGTTGGATCAAATACTACTACACTATTACACTTCCAC
ACTATTTATTTGGGGATGGGCTGGGAGTGACAGTAGCCTAGTAGTTCAGCTACCTGATTACTGCCCCATTCTTTTAGAAGCACATGTCTG
CCAAGGAGTGGTTTGTACTGCTGTGTTTGGTACATCTAGTCTTTTTTCTGCTATAAGTTTTCCTTACCTGTCCTTTAGTGTAGATTTTAT
TCATCACAGGACAGAATAATCAAGGACAACCAAAATCCTTTTGTTAGTTTCAGTACCTCAGCTATCAACATTTCTGAGCTACCATTCAAT
GTTCCTCTGTGTCATGGAGTGAAATTCTTGTTTTGTGGGTATTAGGAGTGTGGGAATGTGATAACCTAAACAACCTTTGCTCTGAAATTC
CATTTTTCCCTCTTTCCCTGAGTTGTATTGACCTACAGAGTTAATTTCCTTTGTATTTTTTTAAGAAAATATTAAAAATCAACGGTCTCA

>In-frame_ENST00000367264_ENST00000367261_TCGA-CG-5717-01A_KDM5B_chr1_202742246_-_KLHL12_chr1_202880331_length(amino acids)=571AA_start in transcript=113_stop in transcript=1828
MEAATTLHPGPRPALPLGGPGPLGEFLPPPECPVFEPSWEEFADPFAFIHKIRPIAEQTGICKVRPPPDWQPPFACDVDKLHFTPRIQRL
NELEAQTRVKLNFLDQIAKYWELQGSTLKIPHVERKILDLFQLNKLVAEEGGFAVVCKDRKWTKIATKMGFAPGKAVGSHIRGHYERILN
PYNLFLSGDSLRVDSEEPVFEAVINWVKHAKKEREESLPNLLQYVRMPLLTPRYITDVIDAEPFIRCSLQCRDLVDEAKKFHLRPELRSQ
MQGPRTRARLGANEVLLVVGGFGSQQSPIDVVEKYDPKTQEWSFLPSITRKRRYVASVSLHDRIYVIGGYDGRSRLSSVECLDYTADEDG
VWYSVAPMNVRRGLAGATTLGDMIYVSGGFDGSRRHTSMERYDPNIDQWSMLGDMQTAREGAGLVVASGVIYCLGGYDGLNILNSVEKYD
PHTGHWTNVTPMATKRSGAGVALLNDHIYVVGGFDGTAHLSSVEAYNIRTDSWTTVTSMTTPRCYVGATVLRGRLYAIAGYDGNSLLSSI

--------------------------------------------------------------

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Fusion Gene PPI Analysis for KDM5B-KLHL12

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Still interaction with
Tgene	KLHL12	chr1:202742246	chr1:202880331	ENST00000367261		3	12	405_568	189.0	569.0	DVL3
Tgene	KLHL12	chr1:202742246	chr1:202880331	ENST00000435533		3	12	405_568	227.0	607.0	DVL3

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for KDM5B-KLHL12

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for KDM5B-KLHL12

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	KDM5B	C0004352	Autistic Disorder	1	GENOMICS_ENGLAND
Hgene	KDM5B	C0007102	Malignant tumor of colon	1	CTD_human
Hgene	KDM5B	C0009375	Colonic Neoplasms	1	CTD_human
Hgene	KDM5B	C4748219	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	1	GENOMICS_ENGLAND