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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:MED24-SLC4A1 (FusionGDB2 ID:52403)

Fusion Gene Summary for MED24-SLC4A1

Fusion gene summary

Fusion gene information	Fusion gene name: MED24-SLC4A1
	Fusion gene ID: 52403
		Hgene	Tgene
	Gene symbol	MED24	SLC4A1
	Gene ID	9862	6521
	Gene name	mediator complex subunit 24	solute carrier family 4 member 1 (Diego blood group)
	Synonyms	ARC100\|CRSP100\|CRSP4\|DRIP100\|MED5\|THRAP4\|TRAP100	AE1\|BND3\|CD233\|CHC\|DI\|EMPB3\|EPB3\|FR\|RTA1A\|SAO\|SPH4\|SW\|WD\|WD1\|WR
	Cytomap	17q21.1	17q21.31
	Type of gene	protein-coding	protein-coding
	Description	mediator of RNA polymerase II transcription subunit 24CRSP complex subunit 4activator-recruited cofactor 100 kDa componentcofactor required for Sp1 transcriptional activation subunit 4cofactor required for Sp1 transcriptional activation, subunit 4, 10	band 3 anion transport proteinDiego blood groupFroese blood groupSwann blood groupWaldner blood groupWright blood groupanion exchange protein 1anion exchanger-1band 3 anion exchangererythrocyte membrane protein band 3erythroid anion exchange pro
	Modification date	20200313	20200313
	UniProtAcc	O75448	.
	Ensembl transtripts involved in fusion gene	ENST00000394126, ENST00000356271, ENST00000394128, ENST00000394127, ENST00000501516, ENST00000479829,	ENST00000262418, ENST00000471005,
Fusion gene scores	* DoF score	21 X 18 X 9=3402	2 X 2 X 2=8
	# samples	26	2
	** MAII score	log2(26/3402*10)=-3.70979961263493 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/8*10)=1.32192809488736
Context	PubMed: MED24 [Title/Abstract] AND SLC4A1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MED24(38179384)-SLC4A1(42328700), # samples:2
Anticipated loss of major functional domain due to fusion event.	MED24-SLC4A1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. MED24-SLC4A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. MED24-SLC4A1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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)

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	MED24	GO:0006367	transcription initiation from RNA polymerase II promoter	12218053
Hgene	MED24	GO:0045893	positive regulation of transcription, DNA-templated	10198638
Tgene	SLC4A1	GO:0006820	anion transport	14734552
Tgene	SLC4A1	GO:0015701	bicarbonate transport	24121512

Fusion gene breakpoints across MED24 (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 SLC4A1 (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	BRCA	TCGA-BH-A0B7-01A	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
ChimerDB4	BRCA	TCGA-BH-A0B7-01A	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-

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Fusion Gene ORF analysis for MED24-SLC4A1

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	ENST00000394126	ENST00000262418	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
5CDS-intron	ENST00000394126	ENST00000471005	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
Frame-shift	ENST00000356271	ENST00000262418	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
5CDS-intron	ENST00000356271	ENST00000471005	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
Frame-shift	ENST00000394128	ENST00000262418	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
5CDS-intron	ENST00000394128	ENST00000471005	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
Frame-shift	ENST00000394127	ENST00000262418	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
5CDS-intron	ENST00000394127	ENST00000471005	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
In-frame	ENST00000501516	ENST00000262418	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
5CDS-intron	ENST00000501516	ENST00000471005	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
intron-3CDS	ENST00000479829	ENST00000262418	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-
intron-intron	ENST00000479829	ENST00000471005	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-

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)
ENST00000394126	MED24	chr17	38179384	-	ENST00000262418	SLC4A1	chr17	42328700	-	5072	2744	419	2998	859
ENST00000501516	MED24	chr17	38179384	-	ENST00000262418	SLC4A1	chr17	42328700	-	4645	2317	10	2571	853

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
ENST00000394126	ENST00000262418	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-	0.002201568	0.9977984
ENST00000501516	ENST00000262418	MED24	chr17	38179384	-	SLC4A1	chr17	42328700	-	0.001795802	0.99820423

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Fusion Genomic Features for MED24-SLC4A1

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 MED24-SLC4A1

Go to
FGviewer for the breakpoints of chr17:38179384-chr17:42328700
.
- 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
MED24 O75448	.
FUNCTION: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. {ECO:0000269\|PubMed:12218053, ECO:0000269\|PubMed:16595664}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

MED24

chr17:38179384

chr17:42328700

ENST00000356271

128_132

737.0

977.0

Motif

Note=LXXLL motif 1

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000356271

344_348

737.0

977.0

Motif

Note=LXXLL motif 2

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000356271

448_452

737.0

977.0

Motif

Note=LXXLL motif 3

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000356271

557_561

737.0

977.0

Motif

Note=LXXLL motif 4

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394127

128_132

737.0

977.0

Motif

Note=LXXLL motif 1

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394127

344_348

737.0

977.0

Motif

Note=LXXLL motif 2

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394127

448_452

737.0

977.0

Motif

Note=LXXLL motif 3

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394127

557_561

737.0

977.0

Motif

Note=LXXLL motif 4

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394128

128_132

750.0

990.0

Motif

Note=LXXLL motif 1

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394128

344_348

750.0

990.0

Motif

Note=LXXLL motif 2

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394128

448_452

750.0

990.0

Motif

Note=LXXLL motif 3

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394128

557_561

750.0

990.0

Motif

Note=LXXLL motif 4

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

839_869

827.0

912.0

Intramembrane

Discontinuously helical

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

870_911

827.0

912.0

Topological domain

Cytoplasmic

- 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

MED24

chr17:38179384

chr17:42328700

ENST00000356271

788_792

737.0

977.0

Motif

Note=LXXLL motif 5

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000356271

857_861

737.0

977.0

Motif

Note=LXXLL motif 6

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394127

788_792

737.0

977.0

Motif

Note=LXXLL motif 5

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394127

857_861

737.0

977.0

Motif

Note=LXXLL motif 6

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394128

788_792

750.0

990.0

Motif

Note=LXXLL motif 5

Hgene

MED24

chr17:38179384

chr17:42328700

ENST00000394128

857_861

750.0

990.0

Motif

Note=LXXLL motif 6

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

304_357

827.0

912.0

Region

Note=Dimerization arm

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

559_630

827.0

912.0

Region

Note=Involved in anion transport

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

55_290

827.0

912.0

Region

Note=Globular

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

1_403

827.0

912.0

Topological domain

Cytoplasmic

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

428_435

827.0

912.0

Topological domain

Extracellular

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

457_459

827.0

912.0

Topological domain

Cytoplasmic

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

477_485

827.0

912.0

Topological domain

Extracellular

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

507_518

827.0

912.0

Topological domain

Cytoplasmic

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

542_570

827.0

912.0

Topological domain

Extracellular

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

592_602

827.0

912.0

Topological domain

Cytoplasmic

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

624_663

827.0

912.0

Topological domain

Extracellular

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

685_700

827.0

912.0

Topological domain

Cytoplasmic

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

738_760

827.0

912.0

Topological domain

Cytoplasmic

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

801_838

827.0

912.0

Topological domain

Cytoplasmic

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

404_427

827.0

912.0

Transmembrane

Helical%3B Name%3D1

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

436_456

827.0

912.0

Transmembrane

Helical%3B Name%3D2

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

460_476

827.0

912.0

Transmembrane

Discontinuously helical%3B Name%3D3

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

519_541

827.0

912.0

Transmembrane

Helical%3B Name%3D5

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

571_591

827.0

912.0

Transmembrane

Helical%3B Name%3D6

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

603_623

827.0

912.0

Transmembrane

Helical%3B Name%3D7

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

664_684

827.0

912.0

Transmembrane

Helical%3B Name%3D8

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

701_719

827.0

912.0

Transmembrane

Helical%3B Name%3D9

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

720_737

827.0

912.0

Transmembrane

Discontinuously helical%3B Name%3D10

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

761_781

827.0

912.0

Transmembrane

Helical%3B Name%3D11

Tgene

SLC4A1

chr17:38179384

chr17:42328700

ENST00000262418

782_800

827.0

912.0

Transmembrane

Helical%3B Name%3D12

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Fusion Gene Sequence for MED24-SLC4A1

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_ENST00000394126_ENST00000262418_TCGA-BH-A0B7-01A_MED24_chr17_38179384_-_SLC4A1_chr17_42328700_length(transcript)=5072nt_BP=2744nt
GGTGCGATCTCGGCTCACCCCAACAACCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGC
ATGCACCACCAAGCCCGGCTAATTTTGTATTTTTAGTGGAGACGAGGTTTCTCCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCCG
GTGATTCGCCCGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGTGCGAGCCACTGCGCTCGGCCGATACTTTCTTAGTGCCCCAGTTTAA
GGAAGGGCGGTTCAGGAGGAGAGAGTCTGACAGGATCTTACTTTATCCCTTTAGCTCTTTTTCTTTCAAATTCCTCTGTCTCGCTTAAAT
CTTCCCGCATCTTCTCCTTTCTATTTAATTCTGCCTTCCCCGGTTCTCCTTAGAACCTCATGTCCTTTTCTTTAGCTCCATTTCTTTCAC
CTCAAAGCTGGCCGCCACCGCTGCCACCTGCTCAGAGTGAAATAATGAAGGTGGTCAACCTGAAGCAAGCCATTTTGCAAGCCTGGAAGG
AGCGCTGGAGTGACTACCAATGGGCAATCAACATGAAGAAATTCTTTCCTAAAGGAGCCACCTGGGATATTCTCAACCTGGCAGATGCGT
TACTAGAGCAGGCCATGATTGGACCATCCCCCAATCCTCTCATCTTGTCCTACCTGAAGTATGCCATTAGTTCCCAGATGGTGTCCTACT
CTTCTGTCCTCACAGCCATCAGTAAGTTTGATGACTTTTCTCGGGACCTGTGTGTCCAGGCATTGCTGGACATCATGGACATGTTTTGTG
ACCGTCTGAGCTGTCACGGCAAAGCAGAGGAATGCATCGGACTGTGCCGAGCCCTTCTTAGCGCCCTCCACTGGCTGCTGCGCTGCACGG
CAGCCTCTGCAGAGCGGCTGCGGGAGGGGCTGGAGGCCGGCACTCCAGCCGCTGGGGAGAAGCAGCTTGCCATGTGCCTTCAGCGCCTGG
AGAAAACCCTCAGCAGCACCAAGAACCGGGCCCTGCTGCACATCGCCAAACTAGAGGAGGCCTCTTCTTGGACTGCCATCGAGCATTCTC
TCTTGAAACTTGGAGAGATCCTGGCCAATCTCAGCAACCCGCAGCTCCGGAGTCAGGCCGAGCAGTGTGGCACCCTCATTAGGAGCATCC
CCACGATGCTGTCTGTGCATGCGGAGCAGATGCACAAGACCGGCTTCCCCACTGTCCACGCCGTGATCCTGCTCGAGGGCACCATGAACC
TGACAGGCGAGACGCAGTCCCTGGTGGAGCAGCTGACGATGGTGAAGCGCATGCAGCATATCCCCACCCCACTTTTTGTCCTGGAGATCT
GGAAAGCTTGCTTCGTGGGGCTCATTGAGTCTCCCGAGGGTACGGAGGAGCTCAAGTGGACAGCTTTCACTTTCCTCAAGATTCCACAGG
TTTTGGTGAAGTTGAAGAAGTACTCTCATGGAGACAAGGACTTCACTGAGGATGTCAACTGTGCTTTTGAGTTCCTGCTGAAGCTCACCC
CCTTGTTGGACAAAGCTGACCAGCGCTGCAACTGTGACTGTACAAACTTCCTGCTCCAAGAATGTGGCAAGCAGGGGCTTCTGTCTGAGG
CCAGCGTCAACAACCTTATGGCTAAGCGCAAAGCGGACCGAGAGCACGCACCCCAGCAGAAATCGGGAGAGAATGCCAACATCCAGCCCA
ACATCCAGCTGATCCTCCGGGCGGAGCCCACTGTCACAAACATCCTCAAGACGATGGATGCAGACCACTCTAAGTCACCGGAGGGACTGC
TGGGAGTCCTGGGCCACATGCTGTCCGGGAAGAGTCTGGACTTGCTGCTGGCTGCCGCCGCCGCCACTGGAAAGCTGAAATCCTTCGCCC
GGAAATTCATCAATTTGAATGAATTCACAACCTATGGCAGCGAAGAAAGCACCAAACCGGCCTCCGTCCGGGCCCTGCTGTTTGACATCT
CCTTCCTCATGCTGTGCCATGTGGCCCAGACCTATGGTTCAGAGGTGATTCTGTCCGAGTCGCGCACAGGAGCTGAGGTGCCCTTCTTCG
AGACCTGGATGCAGACCTGCATGCCTGAGGAGGGCAAGATCCTGAACCCTGACCACCCCTGCTTCCGCCCCGACTCCACCAAAGTGGAGT
CCCTGGTGGCCCTGCTCAACAACTCCTCGGAGATGAAGCTAGTGCAGATGAAGTGGCATGAGGCCTGTCTCAGCATCTCAGCCGCCATCT
TGGAAATCCTCAATGCCTGGGAGAATGGGGTCCTGGCCTTCGAGTCCATCCAGAAAATCACTGATAACATCAAAGGGAAGGTATGCAGTC
TGGCGGTGTGTGCTGTGGCTTGGCTTGTGGCCCACGTCCGGATGCTGGGGCTGGATGAGCGTGAGAAGTCGCTGCAGATGATCCGCCAGC
TGGCAGGGCCACTGTTTAGTGAGAACACCCTGCAGTTCTACAATGAGAGGGTGGTGATCATGAACTCGATCCTGGAGCGCATGTGTGCCG
ACGTGCTGCAGCAGACAGCCACGCAGATCAAGTTTCCCTCCACCGGGGTGGACACAATGCCCTACTGGAACCTGCTGCCCCCCAAGCGGC
CCATCAAAGAGGTGCTGACGGACATTTTTGCCAAGGTGCTGGAGAAGGGCTGGGTGGACAGCCGCTCCATCCACATCTTTGACACCCTGC
TGCACATGGGCGGCGTCTACTGGTTCTGCAACAACCTGATTAAGGTGAAGACCTGGCGCATGCACTTATTCACGGGCATCCAGATCATCT
GCCTGGCAGTGCTGTGGGTGGTGAAGTCCACGCCGGCCTCCCTGGCCCTGCCCTTCGTCCTCATCCTCACTGTGCCGCTGCGGCGCGTCC
TGCTGCCGCTCATCTTCAGGAACGTGGAGCTTCAGTGTCTGGATGCTGATGATGCCAAGGCAACCTTTGATGAGGAGGAAGGTCGGGATG
AATACGACGAAGTGGCCATGCCTGTGTGAGGGGCGGGCCCAGGCCCTAGACCCTCCCCCACCATTCCACATCCCCACCTTCCAAGGAAAA
GCAGAAGTTCATGGGCACCTCATGGACTCCAGGATCCTCCTGGAGCAGCAGCTGAGGCCCCAGGGCTGTGGGTGGGGAAGGAAGGCGTGT
CCAGGAGACCTTCCACAAAGGGTAGCCTGGCTTTTCTGGCTGGGGATGGCCGATGGGGCCCACATTAGGGGGTTTGTTGCACAGTCCCTC
CTGTTGCCACACTTTCACTGGGGATCCCGTGCTGGAAGACTTAGATCTGAGCCCTCCCTCTTCCCAGCACAGGCAGGGGTAGAAGCAAAG
GCAGGAGGTGGGTGAGCGGGTGGGGTGCTTGCTGTGTGACCTTGGGCAAGTCCCTTGACCTTTCCAGCCTATATTTCCTCTTCTGTAAAA
TGGGTATATTGATGATAATACCCACATTACAGGATGGTTACTGAGGACCAAAGATACATGTAAAATAGGGCTTTGTAAACTCCACAGGGA
CTGTTCTATAGCAGTCATCATTTGTCTTTGAACGTACCCAAGGTCACATAGCTGGGATTTGAACTGAGCCGTGCAGCTGGGATTTGAACC
AGGCCTTCTGATTTCAAGGTCCGAGCTCTGTCCTCTGTCAGTCATGCGTCCACTTTCCCTTCCCCTGTGACTCCTCCCTTCCCCACTCTG
CTCCCAGCCCCTACCTTGAGACCCTCTTCTCTGGGCCCAGAGAGAGGCGTCCTGGTGAGGACAAGGTACAGGCAAGGATGATCCAGGGAT
TGGGCCTGGGACTCAGGCCTCCTAAGTGTTTGGTTCCTCCCTCCAAACACTCATTAGTTCACTCATTCATTCATTCCACAAACATTTACT
GAGGGCCCCGGAATCAGTGGACTCCGAGGGGACTGAGACAAGCCCTGCCCTGGGGTGGGGGTGGGGGGCAAGGTACAGTTGATTCTACAT
TTGGATAGGGAGTGGGGGAGGGTGGGAAGGTAGGGGCGGGAGAGTGAGGGGGTTTGTAATTTATTAATTGCGTATTTTCTAAGAGTTTTC
AACATAGTTTGGCTTCACACACAACTTCAGGCCCCTCATTTGAGAGCCATTATCCTCAACTCCATCTAAACTGAATCTTGGGGAGAACCC
AGATCTGACCAATTGGGGTAGGAGACAGCAGGCTCTCCAAGAACATGGGCAAATTTATTTTTTTATAAAACAAAAAGATAAAAAGAGTTG
AAAGACGTGAAAGTGGTGAGAGATGGAGGAAACAGAATCAGGAAGTGGTAGAAAAGAGAGGAGGTGGCTGGGCGCAGTGGCTCACGTTTG
TAATCCCAGCACTTTGGGAGGCCAAGTTGGGCGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTTA
CTACTAAAAATACAAAAATTAGCTGGGTGTCTCGTGGCAGGCACCTGTAATCCCAGCTACTTAGAAGGCTGAGGCAAGAGAATCACCTGA
ACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAA
AAAAAAAAAAAAAAAAACGGAAGGAAACATCAGCCTTGGGGGCCACAGACTCAACATGTGTGTGTGGTGGGGTTCCAGCCCAACATAGAG
TAACATTATTTGTACCTCCCAGGCTAGCTCAGTCCATGGGAGGCTCTCCTGTCCCTGAAAGCTGACACCCACCTTTCACCACTTCGCCCA
TGCTACAGTTCAGTTTCCTCGTCTGTAAAATGGGGATGATAATGGTACCTACCTTGCAGTGTTGTTATAAGGATTAAAGGAGACAGTGCA
AGAAAAGGCCTTGGTTGGTGAAGAGCCCAACCTCGGAGGGGAGCTGCTGGGATCCTCCTTATCTTGACTGGGATGTCCCTGTCTCCCCCT
CCCCTTGCTCCTTGAACATGGCCAAGGAAAGTGAAAAACAAAAATTATTCACTCTGCTAGCACCCTTCCCCTTGATGCCTGGGAATAGGT

>In-frame_ENST00000394126_ENST00000262418_TCGA-BH-A0B7-01A_MED24_chr17_38179384_-_SLC4A1_chr17_42328700_length(amino acids)=859AA_start in transcript=419_stop in transcript=2998
MSFSLAPFLSPQSWPPPLPPAQSEIMKVVNLKQAILQAWKERWSDYQWAINMKKFFPKGATWDILNLADALLEQAMIGPSPNPLILSYLK
YAISSQMVSYSSVLTAISKFDDFSRDLCVQALLDIMDMFCDRLSCHGKAEECIGLCRALLSALHWLLRCTAASAERLREGLEAGTPAAGE
KQLAMCLQRLEKTLSSTKNRALLHIAKLEEASSWTAIEHSLLKLGEILANLSNPQLRSQAEQCGTLIRSIPTMLSVHAEQMHKTGFPTVH
AVILLEGTMNLTGETQSLVEQLTMVKRMQHIPTPLFVLEIWKACFVGLIESPEGTEELKWTAFTFLKIPQVLVKLKKYSHGDKDFTEDVN
CAFEFLLKLTPLLDKADQRCNCDCTNFLLQECGKQGLLSEASVNNLMAKRKADREHAPQQKSGENANIQPNIQLILRAEPTVTNILKTMD
ADHSKSPEGLLGVLGHMLSGKSLDLLLAAAAATGKLKSFARKFINLNEFTTYGSEESTKPASVRALLFDISFLMLCHVAQTYGSEVILSE
SRTGAEVPFFETWMQTCMPEEGKILNPDHPCFRPDSTKVESLVALLNNSSEMKLVQMKWHEACLSISAAILEILNAWENGVLAFESIQKI
TDNIKGKVCSLAVCAVAWLVAHVRMLGLDEREKSLQMIRQLAGPLFSENTLQFYNERVVIMNSILERMCADVLQQTATQIKFPSTGVDTM
PYWNLLPPKRPIKEVLTDIFAKVLEKGWVDSRSIHIFDTLLHMGGVYWFCNNLIKVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFV

--------------------------------------------------------------
>In-frame_ENST00000501516_ENST00000262418_TCGA-BH-A0B7-01A_MED24_chr17_38179384_-_SLC4A1_chr17_42328700_length(transcript)=4645nt_BP=2317nt
GAGTGAAATAATGAAGGTGGTCAACCTGAAGCAAGCCATTTTGCAAGCCTGGAAGGAGCGCTGGAGTGACTACCAATGGGCAATCAACAT
GAAGAAATTCTTTCCTAAAGGAGCCACCTGGGATATTCTCAACCTGGCAGATGCGTTACTAGAGCAGGCCATGATTGGACCATCCCCCAA
TCCTCTCATCTTGTCCTACCTGAAGTATGCCATTAGTTCCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGTTTGATGA
CTTTTCTCGGGACCTGTGTGTCCAGGCATTGCTGGACATCATGGACATGTTTTGTGACCGTCTGAGCTGTCACGGCAAAGCAGAGGAATG
CATCGGACTGTGCCGAGCCCTTCTTAGCGCCCTCCACTGGCTGCTGCGCTGCACGGCAGCCTCTGCAGAGCGGCTGCGGGAGGGGCTGGA
GGCCGGCACTCCAGCCGCTGGGGAGAAGCAGCTTGCCATGTGCCTTCAGCGCCTGGAGAAAACCCTCAGCAGCACCAAGAACCGGGCCCT
GCTGCACATCGCCAAACTAGAGGAGGCCTCATTGCACACATCCCAGGGACTTGGGCAGGGTGGCACCCGAGCCAATCAACCAACAGCTTC
TTGGACTGCCATCGAGCATTCTCTCTTGAAACTTGGAGAGATCCTGGCCAATCTCAGCAACCCGCAGCTCCGGAGTCAGGCCGAGCAGTG
TGGCACCCTCATTAGGAGCATCCCCACGATGCTGTCTGTGCATGCGGAGCAGATGCACAAGACCGGCTTCCCCACTGTCCACGCCGTGAT
CCTGCTCGAGGGCACCATGAACCTGACAGGCGAGACGCAGTCCCTGGTGGAGCAGCTGACGATGGTGAAGCGCATGCAGCATATCCCCAC
CCCACTTTTTGTCCTGGAGATCTGGAAAGCTTGCTTCGTGGGGCTCATTGAGTCTCCCGAGGGTACGGAGGAGCTCAAGTGGACAGCTTT
CACTTTCCTCAAGATTCCACAGGTTTTGGTGAAGTTGAAGAAGTACTCTCATGGAGACAAGGACTTCACTGAGGATGTCAACTGTGCTTT
TGAGTTCCTGCTGAAGCTCACCCCCTTGTTGGACAAAGCTGACCAGCGCTGCAACTGTGACTGTACAAACTTCCTGCTCCAAGAATGTGG
CAAGCAGGGGCTTCTGTCTGAGGCCAGCGTCAACAACCTTATGGCTAAGCGCAAAGCGGACCGAGAGCACGCACCCCAGCAGAAATCGGG
AGAGAATGCCAACATCCAGCCCAACATCCAGCTGATCCTCCGGGCGGAGCCCACTGTCACAAACATCCTCAAGACGATGGATGCAGACCA
CTCTAAGTCACCGGAGGGACTGCTGGGAGTCCTGGGCCACATGCTGTCCGGGAAGAGTCTGGACTTGCTGCTGGCTGCCGCCGCCGCCAC
TGGAAAGCTGAAATCCTTCGCCCGGAAATTCATCAATTTGAATGAATTCACAACCTATGGCAGCGAAGAAAGCACCAAACCGGCCTCCGT
CCGGGCCCTGCTGTTTGACATCTCCTTCCTCATGCTGTGCCATGTGGCCCAGACCTATGGTTCAGAGGTGATTCTGTCCGAGTCGCGCAC
AGGAGCTGAGGTGCCCTTCTTCGAGACCTGGATGCAGACCTGCATGCCTGAGGAGGGCAAGATCCTGAACCCTGACCACCCCTGCTTCCG
CCCCGACTCCACCAAAGTGGAGTCCCTGGTGGCCCTGCTCAACAACTCCTCGGAGATGAAGCTAGTGCAGATGAAGTGGCATGAGGCCTG
TCTCAGCATCTCAGCCGCCATCTTGGAAATCCTCAATGCCTGGGAGAATGGGGTCCTGGCCTTCGAGTCCATCCAGAAAATCACTGATAA
CATCAAAGGGAAGGTATGCAGTCTGGCGGTGTGTGCTGTGGCTTGGCTTGTGGCCCACGTCCGGATGCTGGGGCTGGATGAGCGTGAGAA
GTCGCTGCAGATGATCCGCCAGCTGGCAGGGCCACTGTTTAGTGAGAACACCCTGCAGTTCTACAATGAGAGGGTGGTGATCATGAACTC
GATCCTGGAGCGCATGTGTGCCGACGTGCTGCAGCAGACAGCCACGCAGATCAAGTTTCCCTCCACCGGGGTGGACACAATGCCCTACTG
GAACCTGCTGCCCCCCAAGCGGCCCATCAAAGAGGTGCTGACGGACATTTTTGCCAAGGTGCTGGAGAAGGGCTGGGTGGACAGCCGCTC
CATCCACATCTTTGACACCCTGCTGCACATGGGCGGCGTCTACTGGTTCTGCAACAACCTGATTAAGGTGAAGACCTGGCGCATGCACTT
ATTCACGGGCATCCAGATCATCTGCCTGGCAGTGCTGTGGGTGGTGAAGTCCACGCCGGCCTCCCTGGCCCTGCCCTTCGTCCTCATCCT
CACTGTGCCGCTGCGGCGCGTCCTGCTGCCGCTCATCTTCAGGAACGTGGAGCTTCAGTGTCTGGATGCTGATGATGCCAAGGCAACCTT
TGATGAGGAGGAAGGTCGGGATGAATACGACGAAGTGGCCATGCCTGTGTGAGGGGCGGGCCCAGGCCCTAGACCCTCCCCCACCATTCC
ACATCCCCACCTTCCAAGGAAAAGCAGAAGTTCATGGGCACCTCATGGACTCCAGGATCCTCCTGGAGCAGCAGCTGAGGCCCCAGGGCT
GTGGGTGGGGAAGGAAGGCGTGTCCAGGAGACCTTCCACAAAGGGTAGCCTGGCTTTTCTGGCTGGGGATGGCCGATGGGGCCCACATTA
GGGGGTTTGTTGCACAGTCCCTCCTGTTGCCACACTTTCACTGGGGATCCCGTGCTGGAAGACTTAGATCTGAGCCCTCCCTCTTCCCAG
CACAGGCAGGGGTAGAAGCAAAGGCAGGAGGTGGGTGAGCGGGTGGGGTGCTTGCTGTGTGACCTTGGGCAAGTCCCTTGACCTTTCCAG
CCTATATTTCCTCTTCTGTAAAATGGGTATATTGATGATAATACCCACATTACAGGATGGTTACTGAGGACCAAAGATACATGTAAAATA
GGGCTTTGTAAACTCCACAGGGACTGTTCTATAGCAGTCATCATTTGTCTTTGAACGTACCCAAGGTCACATAGCTGGGATTTGAACTGA
GCCGTGCAGCTGGGATTTGAACCAGGCCTTCTGATTTCAAGGTCCGAGCTCTGTCCTCTGTCAGTCATGCGTCCACTTTCCCTTCCCCTG
TGACTCCTCCCTTCCCCACTCTGCTCCCAGCCCCTACCTTGAGACCCTCTTCTCTGGGCCCAGAGAGAGGCGTCCTGGTGAGGACAAGGT
ACAGGCAAGGATGATCCAGGGATTGGGCCTGGGACTCAGGCCTCCTAAGTGTTTGGTTCCTCCCTCCAAACACTCATTAGTTCACTCATT
CATTCATTCCACAAACATTTACTGAGGGCCCCGGAATCAGTGGACTCCGAGGGGACTGAGACAAGCCCTGCCCTGGGGTGGGGGTGGGGG
GCAAGGTACAGTTGATTCTACATTTGGATAGGGAGTGGGGGAGGGTGGGAAGGTAGGGGCGGGAGAGTGAGGGGGTTTGTAATTTATTAA
TTGCGTATTTTCTAAGAGTTTTCAACATAGTTTGGCTTCACACACAACTTCAGGCCCCTCATTTGAGAGCCATTATCCTCAACTCCATCT
AAACTGAATCTTGGGGAGAACCCAGATCTGACCAATTGGGGTAGGAGACAGCAGGCTCTCCAAGAACATGGGCAAATTTATTTTTTTATA
AAACAAAAAGATAAAAAGAGTTGAAAGACGTGAAAGTGGTGAGAGATGGAGGAAACAGAATCAGGAAGTGGTAGAAAAGAGAGGAGGTGG
CTGGGCGCAGTGGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCCAAGTTGGGCGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTG
GCCAACATGGTGAAACCCCGTTACTACTAAAAATACAAAAATTAGCTGGGTGTCTCGTGGCAGGCACCTGTAATCCCAGCTACTTAGAAG
GCTGAGGCAAGAGAATCACCTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCG
AGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACGGAAGGAAACATCAGCCTTGGGGGCCACAGACTCAACATGTGTGTGTGG
TGGGGTTCCAGCCCAACATAGAGTAACATTATTTGTACCTCCCAGGCTAGCTCAGTCCATGGGAGGCTCTCCTGTCCCTGAAAGCTGACA
CCCACCTTTCACCACTTCGCCCATGCTACAGTTCAGTTTCCTCGTCTGTAAAATGGGGATGATAATGGTACCTACCTTGCAGTGTTGTTA
TAAGGATTAAAGGAGACAGTGCAAGAAAAGGCCTTGGTTGGTGAAGAGCCCAACCTCGGAGGGGAGCTGCTGGGATCCTCCTTATCTTGA
CTGGGATGTCCCTGTCTCCCCCTCCCCTTGCTCCTTGAACATGGCCAAGGAAAGTGAAAAACAAAAATTATTCACTCTGCTAGCACCCTT

>In-frame_ENST00000501516_ENST00000262418_TCGA-BH-A0B7-01A_MED24_chr17_38179384_-_SLC4A1_chr17_42328700_length(amino acids)=853AA_start in transcript=10_stop in transcript=2571
MKVVNLKQAILQAWKERWSDYQWAINMKKFFPKGATWDILNLADALLEQAMIGPSPNPLILSYLKYAISSQMVSYSSVLTAISKFDDFSR
DLCVQALLDIMDMFCDRLSCHGKAEECIGLCRALLSALHWLLRCTAASAERLREGLEAGTPAAGEKQLAMCLQRLEKTLSSTKNRALLHI
AKLEEASLHTSQGLGQGGTRANQPTASWTAIEHSLLKLGEILANLSNPQLRSQAEQCGTLIRSIPTMLSVHAEQMHKTGFPTVHAVILLE
GTMNLTGETQSLVEQLTMVKRMQHIPTPLFVLEIWKACFVGLIESPEGTEELKWTAFTFLKIPQVLVKLKKYSHGDKDFTEDVNCAFEFL
LKLTPLLDKADQRCNCDCTNFLLQECGKQGLLSEASVNNLMAKRKADREHAPQQKSGENANIQPNIQLILRAEPTVTNILKTMDADHSKS
PEGLLGVLGHMLSGKSLDLLLAAAAATGKLKSFARKFINLNEFTTYGSEESTKPASVRALLFDISFLMLCHVAQTYGSEVILSESRTGAE
VPFFETWMQTCMPEEGKILNPDHPCFRPDSTKVESLVALLNNSSEMKLVQMKWHEACLSISAAILEILNAWENGVLAFESIQKITDNIKG
KVCSLAVCAVAWLVAHVRMLGLDEREKSLQMIRQLAGPLFSENTLQFYNERVVIMNSILERMCADVLQQTATQIKFPSTGVDTMPYWNLL
PPKRPIKEVLTDIFAKVLEKGWVDSRSIHIFDTLLHMGGVYWFCNNLIKVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVP

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

Top

Fusion Gene PPI Analysis for MED24-SLC4A1

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

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Tgene	SLC4A1	chr17:38179384	chr17:42328700	ENST00000262418		17	20	176_185	827.0	912.0	ANK1

- 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

Top

Related Drugs for MED24-SLC4A1

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

Top

Related Diseases for MED24-SLC4A1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	SLC4A1	C2675212	Spherocytosis, Type 4	17	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	SLC4A1	C1862322	Ovalocytosis, Malaysian-Melanesian-Filipino Type	5	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene	SLC4A1	C1861453	Pseudohyperkalemia Cardiff	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	SLC4A1	C1969038	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	SLC4A1	C1704380	Distal Renal Tubular Acidosis	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene	SLC4A1	C0001126	Renal tubular acidosis	2	CTD_human
Tgene	SLC4A1	C0013902	Elliptocytosis, Hereditary	2	CTD_human;GENOMICS_ENGLAND
Tgene	SLC4A1	C0037889	Hereditary spherocytosis	2	CTD_human;ORPHANET
Tgene	SLC4A1	C0268435	Renal Tubular Acidosis, Type II	2	CTD_human
Tgene	SLC4A1	C1862324	Elliptocytosis 4	2	ORPHANET
Tgene	SLC4A1	C0002878	Anemia, Hemolytic	1	CTD_human
Tgene	SLC4A1	C0002879	Anemia, Hemolytic, Acquired	1	CTD_human
Tgene	SLC4A1	C0002889	Anemia, Microangiopathic	1	CTD_human
Tgene	SLC4A1	C0018939	Hematological Disease	1	CTD_human
Tgene	SLC4A1	C0221021	Microangiopathic hemolytic anemia	1	CTD_human
Tgene	SLC4A1	C0221409	Anemia, hereditary spherocytic hemolytic	1	ORPHANET
Tgene	SLC4A1	C0272051	Xerocytosis	1	ORPHANET
Tgene	SLC4A1	C0427480	Elliptocytosis found	1	GENOMICS_ENGLAND