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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 11032

FusionGeneSummary for EFCAB6_CYB5R3

check button Fusion gene summary
Fusion gene informationFusion gene name: EFCAB6_CYB5R3
Fusion gene ID: 11032
HgeneTgene
Gene symbol

EFCAB6

CYB5R3

Gene ID

64800

1727

Gene nameEF-hand calcium binding domain 6cytochrome b5 reductase 3
SynonymsDJBP|HSCBCIP1|dJ185D5.1B5R|DIA1
Cytomap

22q13.2-q13.31

22q13.2

Type of geneprotein-codingprotein-coding
DescriptionEF-hand calcium-binding domain-containing protein 6CAP-binding protein complex-interacting protein 1DJ-1-binding proteinNADH-cytochrome b5 reductase 3NADH-cytochrome b5 reductase 3 membrane-bound formNADH-cytochrome b5 reductase 3 soluble formdiaphorase-1mutant NADH-cytochrome b5 reductase
Modification date2018052320180523
UniProtAcc

Q5THR3

P00387

Ensembl transtripts involved in fusion geneENST00000396231, ENST00000262726, 
ENST00000358439, ENST00000356087, 
ENST00000461800, 		ENST00000361740, 
ENST00000396303, ENST00000352397, 
ENST00000407623, ENST00000407332, 
ENST00000402438, 
Fusion gene scores* DoF score3 X 3 X 3=273 X 3 X 2=18
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/18*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EFCAB6 [Title/Abstract] AND CYB5R3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSKCMTCGA-FS-A4F4-06AEFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000396231ENST00000361740EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000396231ENST00000396303EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000396231ENST00000352397EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000396231ENST00000407623EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000396231ENST00000407332EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000396231ENST00000402438EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
Frame-shiftENST00000262726ENST00000361740EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000262726ENST00000396303EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000262726ENST00000352397EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000262726ENST00000407623EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000262726ENST00000407332EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000262726ENST00000402438EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
Frame-shiftENST00000358439ENST00000361740EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000358439ENST00000396303EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000358439ENST00000352397EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000358439ENST00000407623EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000358439ENST00000407332EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
5CDS-5UTRENST00000358439ENST00000402438EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-3CDSENST00000356087ENST00000361740EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000356087ENST00000396303EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000356087ENST00000352397EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000356087ENST00000407623EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000356087ENST00000407332EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000356087ENST00000402438EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-3CDSENST00000461800ENST00000361740EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000461800ENST00000396303EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000461800ENST00000352397EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000461800ENST00000407623EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000461800ENST00000407332EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-
intron-5UTRENST00000461800ENST00000402438EFCAB6chr22

44112728

-CYB5R3chr22

43032852

-

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FusionProtFeatures for EFCAB6_CYB5R3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFCAB6

Q5THR3

CYB5R3

P00387


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
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932172_2072941502DomainEF-hand 2
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-93270_1052941502DomainEF-hand 1
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-73070_1051421350DomainEF-hand 1
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000352397-0940_1527302DomainFAD-binding FR-type
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000361740-0940_15240335DomainFAD-binding FR-type
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000396303-0940_152-16279DomainFAD-binding FR-type
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000402438-11040_152-16279DomainFAD-binding FR-type
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000407332-0840_152-31279DomainFAD-binding FR-type
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000407623-0940_152-16279DomainFAD-binding FR-type
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000352397-09132_1477302Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000352397-09171_2067302Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000361740-09132_14740335Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000361740-09171_20640335Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000396303-09132_147-16279Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000396303-09171_206-16279Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000402438-110132_147-16279Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000402438-110171_206-16279Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000407332-08132_147-31279Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000407332-08171_206-31279Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000407623-09132_147-16279Nucleotide bindingFAD
TgeneCYB5R3chr22:44112728chr22:43032852ENST00000407623-09171_206-16279Nucleotide bindingFAD

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932754_7652941502Calcium bindingOntology_term=ECO:0000255
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730754_7651421350Calcium bindingOntology_term=ECO:0000255
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-9321069_11042941502DomainEF-hand 12
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-9321176_12112941502DomainEF-hand 13
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-9321212_12472941502DomainEF-hand 14
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-9321359_13942941502DomainEF-hand 15
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-9321434_14692941502DomainEF-hand 16
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-9321470_15012941502DomainEF-hand 17
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932297_3322941502DomainEF-hand 3
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932403_4382941502DomainEF-hand 4
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932439_4742941502DomainEF-hand 5
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932504_5392941502DomainEF-hand 6
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932634_6692941502DomainEF-hand 7
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932741_7762941502DomainEF-hand 8
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932847_8822941502DomainEF-hand 9
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932883_9182941502DomainEF-hand 10
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-932964_9992941502DomainEF-hand 11
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-7301069_11041421350DomainEF-hand 12
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-7301176_12111421350DomainEF-hand 13
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-7301212_12471421350DomainEF-hand 14
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-7301359_13941421350DomainEF-hand 15
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-7301434_14691421350DomainEF-hand 16
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-7301470_15011421350DomainEF-hand 17
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730172_2071421350DomainEF-hand 2
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730297_3321421350DomainEF-hand 3
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730403_4381421350DomainEF-hand 4
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730439_4741421350DomainEF-hand 5
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730504_5391421350DomainEF-hand 6
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730634_6691421350DomainEF-hand 7
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730741_7761421350DomainEF-hand 8
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730847_8821421350DomainEF-hand 9
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730883_9181421350DomainEF-hand 10
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-730964_9991421350DomainEF-hand 11


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FusionGeneSequence for EFCAB6_CYB5R3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_EFCAB6_ENST00000396231_chr22_44112728_-_CYB5R3_ENST00000361740_chr22_43032852_-_437aa
MNCCRTLRELEIQVGEKVFKNIKTVMKAFELIDVNKTGLVRPQELRRVLETFCMKLRDEEYEKFSKHYNIHKDTAVDYNVFLKNLSINND
LNLRYCMGNQEVSLENQQAKNSKKERLLGSASSEDIWRNYSLDEIERNFCLQLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPL
RLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQ
IGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEEL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_EFCAB6_ENST00000396231_chr22_44112728_-_CYB5R3_ENST00000361740_chr22_43032852_-_1311nt
ATGAATTGCTGCCGCACATTAAGAGAACTTGAAATCCAAGTGGGAGAAAAGGTTTTCAAAAACATTAAGACTGTTATGAAAGCCTTTGAG
CTCATTGATGTTAACAAGACTGGACTGGTTCGACCGCAGGAGCTAAGAAGGGTTCTGGAGACCTTCTGTATGAAGTTAAGAGACGAGGAA
TACGAAAAGTTTTCGAAACACTACAACATCCACAAGGATACTGCAGTAGATTACAACGTGTTTTTGAAGAATCTCAGCATAAATAACGAC
TTGAACCTTAGATATTGTATGGGAAATCAAGAGGTCTCGTTGGAGAATCAACAAGCCAAAAATTCCAAAAAGGAACGTTTGCTAGGTTCT
GCATCATCTGAAGATATCTGGAGAAACTACTCCTTGGATGAAATTGAGAGGAACTTTTGTCTACAATTGGGCCATATGGTGCTCTTCCCA
GTCTGGTTCCTGTACAGTCTGCTCATGAAGCTGTTCCAGCGCTCCACGCCAGCCATCACCCTCGAGAGCCCGGACATCAAGTACCCGCTG
CGGCTCATCGACCGGGAGATCATCAGCCATGACACCCGGCGCTTCCGCTTTGCCCTGCCGTCACCCCAGCACATCCTGGGCCTCCCTGTC
GGCCAGCACATCTACCTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCGGCCCTATACACCCATCTCCAGCGATGATGACAAGGGCTTC
GTGGACCTGGTCATCAAGGTTTACTTCAAGGACACCCATCCCAAGTTTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATGCAG
ATTGGAGACACCATTGAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGGAAGTTCGCCATCCGACCTGACAAAAAGTCC
AACCCTATCATCAGGACAGTGAAGTCTGTGGGCATGATCGCGGGAGGGACAGGCATCACCCCGATGCTGCAGGTGATCCGCGCCATCATG
AAGGACCCTGATGACCACACTGTGTGCCACCTGCTCTTTGCCAACCAGACCGAGAAGGACATCCTGCTGCGACCTGAGCTGGAGGAACTC
AGGAACAAACATTCTGCACGCTTCAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGGACTACGGCCAGGGCTTCGTGAATGAG
GAGATGATCCGGGACCACCTTCCACCCCCAGAGGAGGAGCCGCTGGTGCTGATGTGTGGCCCCCCACCCATGATCCAGTACGCCTGCCTT


* Fusion transcript sequences (Full-length transcript).
>In-frame_EFCAB6_ENST00000396231_chr22_44112728_-_CYB5R3_ENST00000361740_chr22_43032852_-_3509nt
GGAGAATCGAGGAGGGGTTCCCGGGCTCATCGCAGAGGATTGGAAGGGCCTAGATTACTGCCCAATGACAAAAGTGTGGGCTTAATGTCC
TCACTCTTCAGGGAGAGAATGTGGACTTTAGCATTTGAACTGAATATTTGAGATTGAAGATTTCTGAATAATCCCCCTTAGCACCTCTGG
TACTGTACCGTACCTTGCCTTTCTGTCCAGGTTTGGTGGAATTGACCTATATATAAATGGTATAAAGAGGGGAGGTGGGAATGAAATGAA
TTGCTGCCGCACATTAAGAGAACTTGAAATCCAAGTGGGAGAAAAGGTTTTCAAAAACATTAAGACTGTTATGAAAGCCTTTGAGCTCAT
TGATGTTAACAAGACTGGACTGGTTCGACCGCAGGAGCTAAGAAGGGTTCTGGAGACCTTCTGTATGAAGTTAAGAGACGAGGAATACGA
AAAGTTTTCGAAACACTACAACATCCACAAGGATACTGCAGTAGATTACAACGTGTTTTTGAAGAATCTCAGCATAAATAACGACTTGAA
CCTTAGATATTGTATGGGAAATCAAGAGGTCTCGTTGGAGAATCAACAAGCCAAAAATTCCAAAAAGGAACGTTTGCTAGGTTCTGCATC
ATCTGAAGATATCTGGAGAAACTACTCCTTGGATGAAATTGAGAGGAACTTTTGTCTACAATTGGGCCATATGGTGCTCTTCCCAGTCTG
GTTCCTGTACAGTCTGCTCATGAAGCTGTTCCAGCGCTCCACGCCAGCCATCACCCTCGAGAGCCCGGACATCAAGTACCCGCTGCGGCT
CATCGACCGGGAGATCATCAGCCATGACACCCGGCGCTTCCGCTTTGCCCTGCCGTCACCCCAGCACATCCTGGGCCTCCCTGTCGGCCA
GCACATCTACCTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCGGCCCTATACACCCATCTCCAGCGATGATGACAAGGGCTTCGTGGA
CCTGGTCATCAAGGTTTACTTCAAGGACACCCATCCCAAGTTTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATGCAGATTGG
AGACACCATTGAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCC
TATCATCAGGACAGTGAAGTCTGTGGGCATGATCGCGGGAGGGACAGGCATCACCCCGATGCTGCAGGTGATCCGCGCCATCATGAAGGA
CCCTGATGACCACACTGTGTGCCACCTGCTCTTTGCCAACCAGACCGAGAAGGACATCCTGCTGCGACCTGAGCTGGAGGAACTCAGGAA
CAAACATTCTGCACGCTTCAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGGACTACGGCCAGGGCTTCGTGAATGAGGAGAT
GATCCGGGACCACCTTCCACCCCCAGAGGAGGAGCCGCTGGTGCTGATGTGTGGCCCCCCACCCATGATCCAGTACGCCTGCCTTCCCAA
CCTGGACCACGTGGGCCACCCCACGGAGCGCTGCTTCGTCTTCTGAGGGCCGGGCACGGTCACACGGCCACCCGCCCCGCGCACCCCACG
CCCTGTTCACGCTCACCCAGTCACCTCCCCACATCGCACACTGGGGCCCCGGGTTCAGCCTGGCCTGCCCGTGCCCTGGTGAATCACCTG
GCTGAGCAGTTCCCCTGGAGCCCCTTCGGGAGCAGGGCTGTGTCCCAGATGGGCCACGGCTGAGCCTTCAGAGTACGTCCTGCCTGGCAC
TTACTGGTCCTTACCAGAGACGCCCAGCCCCATCCCTGTCCTCATGACCCCTCGTCCACCCCCCACACACACTATAAGGCTGAGGGCTGC
CAGCAGCCCCGTCTGCCCACCATTCCCGGCCGTGGACCATAGTCGGGATGTCAGCAGACACACATGGGCAGCCCAAAGCTGCAGGTGCCA
GGGCCCACCCCAGCCTCGCCTGTCACCCCCACTCCCGCCTCAGGGCCAGGCCCAGGCCTCACCACCTGACGCTGCATGAGACATTGACAC
CAGAAAGCCCTCTTGGGGGCACTGCTCCCTACCCCAGGGCCCTGGCCAGCCGGGAGCTTGGCTCTCCTCTGGCTAGAGTGGGAAGAGGGG
GCTGGCCATGGGGCCCTCCCAGAACCTCAGCATTTCCTTCCAGCCCATCCAAACACTGAGGCAGCCTTGGGGAACCCCGAGCTGGGGGGT
TGGCAGCCCACTGCACCGCCTCAGGGTTTTGGGGTCCTGGGCTGGGGCCACCATCCCTGATGGCAGAACTCCCACAACCACATGTATTTA
TTCCTCTGTCCTAAACCGTCCCCTCCTTCCCTCACCCCCAGCACAGGGGGATTCTGAGCAGTGCCTCTTGTCTGAGGGACATATCAGTGA
CCTCGACGTTGCCTTTAGACTACAGTTGTGTTAGCCTCTTGCGTATTGGCTTTTTCAGAGTCATTTATGAGCAGAAAAAAAAAAAGTAAA
ACTTTGCTAATATTAACCCTTCTCTAGCTCCTCGAGGGTCTGTGACCTGCAACACAAGGGGTGGGGTCAGGAAAGGGCTGGGGAAGACCT
AGCATTTTTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTTTGTCACCCAGGCTGGAGTGGCATGATCTCAGCTCACTACAAC
CTCCACCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAAAAGTGCCCACCACCACACCCAGCTAGTTTTT
GTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC
GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA
TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC
TGGGATTACAGGCGTGAGCCACTGCGCCCGGCTCCAGCATTTATTTCTGATGTATCTTTGTGGTAGAAAATTTGGAAAGTGCAGAGAAGT
ATACACAGGAAGAAAAATTCCCAACCCCCAGAGGCAAACCAGCTGAAACCACGCAACCCCAGTCACCCCAATGCACCGCGAGGCTGCTGC
CTCCTGTCAGGGTCAGATGAGCCTCGAGGCTCAGGAAAGTCAGAGGATGCCATCTGCATGGTGGTAAATTACAGAGGTGATGAGGCAAGG
TGGGTGTGGGGCTGTTCTTAAAACGGGGCAGCAGGAAGGCCCCAAGGAGATGGATTTGGGCTGGGACGGGAAGAGAGAGCTGGCCATGCT


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FusionGenePPI for EFCAB6_CYB5R3


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
EFCAB6PARK7, AR, HDAC1, SIN3ACYB5R3UBC, SPP1, CDK2, SDHA, HSPA1L, RPS7, SLC1A5, PARK2, ENO1, MOV10, NXF1, HOXB5, TSPAN5, RTN4, ACTL6A, RNF26, CPVL, CYP1A1, ATP5F1, CYB5B, PTEN, TCTN2, TCTN3, CEP290, CNTRL, SCLT1, STIL, TMEM17, COQ9, C15orf48, NDUFA4, OCIAD1, FAM136A, CHCHD10, NDUFS3, RTN1, SNRNP27, TSPAN11, USP47, SLC37A3, GML, MRPS11, HSPA8, AMTN, PDHA1


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
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-9321407_15012941502AR
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-7301407_15011421350AR
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000262726-9321303_15012941502PARK7
HgeneEFCAB6chr22:44112728chr22:43032852ENST00000396231-7301303_15011421350PARK7


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


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RelatedDrugs for EFCAB6_CYB5R3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EFCAB6_CYB5R3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCYB5R3C0268193NADH cytochrome B5 reductase deficiency9CTD_human;UNIPROT
TgeneCYB5R3C0010520Cyanosis1CTD_human;HPO
TgeneCYB5R3C0025637Methemoglobinemia1CTD_human;HPO