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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10430

FusionGeneSummary for DOK5_SLC2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: DOK5_SLC2A1
Fusion gene ID: 10430
HgeneTgene
Gene symbol

DOK5

SLC2A1

Gene ID

55816

6513

Gene namedocking protein 5solute carrier family 2 member 1
SynonymsC20orf180|IRS-6|IRS6CSE|DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED|SDCHCN
Cytomap

20q13.2

1p34.2

Type of geneprotein-codingprotein-coding
Descriptiondocking protein 5downstream of tyrosine kinase 5insulin receptor substrate 6solute carrier family 2, facilitated glucose transporter member 1choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)glucose transporter type 1, erythrocyte/brainhepG2 glucose transporterhuman T-cell leukemia virus (I and II) r
Modification date2018051920180527
UniProtAcc

Q9P104

P11166

Ensembl transtripts involved in fusion geneENST00000262593, ENST00000395939, 
ENST00000491469, 		ENST00000426263, 
ENST00000475162, ENST00000415851, 
ENST00000372500, 
Fusion gene scores* DoF score3 X 2 X 1=65 X 4 X 3=60
# samples 35
** MAII scorelog2(3/6*10)=2.32192809488736log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DOK5 [Title/Abstract] AND SLC2A1 [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
TgeneSLC2A1

GO:0065003

protein-containing complex assembly

18347014

TgeneSLC2A1

GO:1904659

glucose transmembrane transport

18245775


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
TCGALDOVTCGA-29-1781-01ADOK5chr20

53092551

+SLC2A1chr1

43408992

-
* 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-frameENST00000262593ENST00000426263DOK5chr20

53092551

+SLC2A1chr1

43408992

-
5CDS-intronENST00000262593ENST00000475162DOK5chr20

53092551

+SLC2A1chr1

43408992

-
5CDS-intronENST00000262593ENST00000415851DOK5chr20

53092551

+SLC2A1chr1

43408992

-
5CDS-intronENST00000262593ENST00000372500DOK5chr20

53092551

+SLC2A1chr1

43408992

-
intron-3CDSENST00000395939ENST00000426263DOK5chr20

53092551

+SLC2A1chr1

43408992

-
intron-intronENST00000395939ENST00000475162DOK5chr20

53092551

+SLC2A1chr1

43408992

-
intron-intronENST00000395939ENST00000415851DOK5chr20

53092551

+SLC2A1chr1

43408992

-
intron-intronENST00000395939ENST00000372500DOK5chr20

53092551

+SLC2A1chr1

43408992

-
3UTR-3CDSENST00000491469ENST00000426263DOK5chr20

53092551

+SLC2A1chr1

43408992

-
3UTR-intronENST00000491469ENST00000475162DOK5chr20

53092551

+SLC2A1chr1

43408992

-
3UTR-intronENST00000491469ENST00000415851DOK5chr20

53092551

+SLC2A1chr1

43408992

-
3UTR-intronENST00000491469ENST00000372500DOK5chr20

53092551

+SLC2A1chr1

43408992

-

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FusionProtFeatures for DOK5_SLC2A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DOK5

Q9P104

SLC2A1

P11166

DOK proteins are enzymatically inert adaptor orscaffolding proteins. They provide a docking platform for theassembly of multimolecular signaling complexes. DOK5 functions inRET-mediated neurite outgrowth and plays a positive role inactivation of the MAP kinase pathway. Putative link withdownstream effectors of RET in neuronal differentiation. Facilitative glucose transporter. This isoform may beresponsible for constitutive or basal glucose uptake. Has a verybroad substrate specificity; can transport a wide range of aldosesincluding both pentoses and hexoses. {ECO:0000269|PubMed:18245775,ECO:0000269|PubMed:19449892}.

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
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010282_2886493RegionNote=Monosaccharide binding
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010113_1206493Topological domainExtracellular
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010145_1556493Topological domainCytoplasmic
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010177_1856493Topological domainExtracellular
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010207_2716493Topological domainCytoplasmic
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010294_3066493Topological domainExtracellular
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010329_3346493Topological domainCytoplasmic
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-01034_666493Topological domainExtracellular
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010356_3656493Topological domainExtracellular
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010389_4016493Topological domainCytoplasmic
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010423_4296493Topological domainExtracellular
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010451_4926493Topological domainCytoplasmic
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-01088_906493Topological domainCytoplasmic
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010121_1446493TransmembraneNote=Helical%3B Name%3D4
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-01012_336493TransmembraneNote=Helical%3B Name%3D1
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010156_1766493TransmembraneNote=Helical%3B Name%3D5
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010186_2066493TransmembraneNote=Helical%3B Name%3D6
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010272_2936493TransmembraneNote=Helical%3B Name%3D7
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010307_3286493TransmembraneNote=Helical%3B Name%3D8
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010335_3556493TransmembraneNote=Helical%3B Name%3D9
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010366_3886493TransmembraneNote=Helical%3B Name%3D10
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010402_4226493TransmembraneNote=Helical%3B Name%3D11
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-010430_4506493TransmembraneNote=Helical%3B Name%3D12
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-01067_876493TransmembraneNote=Helical%3B Name%3D2
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-01091_1126493TransmembraneNote=Helical%3B Name%3D3

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDOK5chr20:53092551chr1:43408992ENST00000262593+18132_23722307DomainIRS-type PTB
HgeneDOK5chr20:53092551chr1:43408992ENST00000262593+188_11222307DomainNote=PH
HgeneDOK5chr20:53092551chr1:43408992ENST00000395939+18132_237-149199DomainIRS-type PTB
HgeneDOK5chr20:53092551chr1:43408992ENST00000395939+188_112-149199DomainNote=PH
HgeneDOK5chr20:53092551chr1:43408992ENST00000262593+18263_27322307MotifNote=DKFBH motif
HgeneDOK5chr20:53092551chr1:43408992ENST00000395939+18263_273-149199MotifNote=DKFBH motif
TgeneSLC2A1chr20:53092551chr1:43408992ENST00000426263-0101_116493Topological domainCytoplasmic


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FusionGeneSequence for DOK5_SLC2A1


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_DOK5_ENST00000262593_chr20_53092551_+_SLC2A1_ENST00000426263_chr1_43408992_-_509aa
MASNFNDIVKQGYVRIRSRRLGKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSV
GGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGI
VVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHDLQEMKEESRQMMRE
KKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGM
AGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVF


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_DOK5_ENST00000262593_chr20_53092551_+_SLC2A1_ENST00000426263_chr1_43408992_-_1527nt
ATGGCTTCCAATTTTAATGACATAGTGAAGCAAGGGTACGTGAGGATCCGGAGCAGACGCCTCGGGAAGCTGACGGGTCGCCTCATGCTG
GCCGTGGGAGGAGCAGTGCTTGGCTCCCTGCAGTTTGGCTACAACACTGGAGTCATCAATGCCCCCCAGAAGGTGATCGAGGAGTTCTAC
AACCAGACATGGGTCCACCGCTATGGGGAGAGCATCCTGCCCACCACGCTCACCACGCTCTGGTCCCTCTCAGTGGCCATCTTTTCTGTT
GGGGGCATGATTGGCTCCTTCTCTGTGGGCCTTTTCGTTAACCGCTTTGGCCGGCGGAATTCAATGCTGATGATGAACCTGCTGGCCTTC
GTGTCCGCCGTGCTCATGGGCTTCTCGAAACTGGGCAAGTCCTTTGAGATGCTGATCCTGGGCCGCTTCATCATCGGTGTGTACTGCGGC
CTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGGGGCCCTGGGCACCCTGCACCAGCTGGGCATC
GTCGTCGGCATCCTCATCGCCCAGGTGTTCGGCCTGGACTCCATCATGGGCAACAAGGACCTGTGGCCCCTGCTGCTGAGCATCATCTTC
ATCCCGGCCCTGCTGCAGTGCATCGTGCTGCCCTTCTGCCCCGAGAGTCCCCGCTTCCTGCTCATCAACCGCAACGAGGAGAACCGGGCC
AAGAGTGTGCTAAAGAAGCTGCGCGGGACAGCTGACGTGACCCATGACCTGCAGGAGATGAAGGAAGAGAGTCGGCAGATGATGCGGGAG
AAGAAGGTCACCATCCTGGAGCTGTTCCGCTCCCCCGCCTACCGCCAGCCCATCCTCATCGCTGTGGTGCTGCAGCTGTCCCAGCAGCTG
TCTGGCATCAACGCTGTCTTCTATTACTCCACGAGCATCTTCGAGAAGGCGGGGGTGCAGCAGCCTGTGTATGCCACCATTGGCTCCGGT
ATCGTCAACACGGCCTTCACTGTCGTGTCGCTGTTTGTGGTGGAGCGAGCAGGCCGGCGGACCCTGCACCTCATAGGCCTCGCTGGCATG
GCGGGTTGTGCCATACTCATGACCATCGCGCTAGCACTGCTGGAGCAGCTACCCTGGATGTCCTATCTGAGCATCGTGGCCATCTTTGGC
TTTGTGGCCTTCTTTGAAGTGGGTCCTGGCCCCATCCCATGGTTCATCGTGGCTGAACTCTTCAGCCAGGGTCCACGTCCAGCTGCCATT
GCCGTTGCAGGCTTCTCCAACTGGACCTCAAATTTCATTGTGGGCATGTGCTTCCAGTATGTGGAGCAACTGTGTGGTCCCTACGTCTTC
ATCATCTTCACTGTGCTCCTGGTTCTGTTCTTCATCTTCACCTACTTCAAAGTTCCTGAGACTAAAGGCCGGACCTTCGATGAGATCGCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_DOK5_ENST00000262593_chr20_53092551_+_SLC2A1_ENST00000426263_chr1_43408992_-_3537nt
TTCTCCTCCTTCTCGGCCGGGAGGAGGCAGGGCTGGATCCCTCAGCCGCCGCCGCTCCTCCTCCTGGCAGGCCGGCCGCGGAGTCAGCTG
ACGCCGGCGCTCCAGCCTCGCCTCCCCGCGCCGCGCTCTGCGCTCCCCGAAAGTGGCTGCAAGCCGGCCGCCCACTGTCAGGGTTGGGGG
GACAGAGAAAGTGATGTGCGCCTTCTAAAGCCTCGCCCAGCGCCGCCGAAGCAGCTTCACCTCTCCAACTTTCTCCCACCGACTGCTTGT
CTTGACCCTGCCCTCCACCCTCCCCAGAGCCACTTCGGGTGCGCGCTCTTGGGTAAAGGGGGGGTCACCGGCTGTCTGGGATGGCTTCCA
ATTTTAATGACATAGTGAAGCAAGGGTACGTGAGGATCCGGAGCAGACGCCTCGGGAAGCTGACGGGTCGCCTCATGCTGGCCGTGGGAG
GAGCAGTGCTTGGCTCCCTGCAGTTTGGCTACAACACTGGAGTCATCAATGCCCCCCAGAAGGTGATCGAGGAGTTCTACAACCAGACAT
GGGTCCACCGCTATGGGGAGAGCATCCTGCCCACCACGCTCACCACGCTCTGGTCCCTCTCAGTGGCCATCTTTTCTGTTGGGGGCATGA
TTGGCTCCTTCTCTGTGGGCCTTTTCGTTAACCGCTTTGGCCGGCGGAATTCAATGCTGATGATGAACCTGCTGGCCTTCGTGTCCGCCG
TGCTCATGGGCTTCTCGAAACTGGGCAAGTCCTTTGAGATGCTGATCCTGGGCCGCTTCATCATCGGTGTGTACTGCGGCCTGACCACAG
GCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGGGGCCCTGGGCACCCTGCACCAGCTGGGCATCGTCGTCGGCA
TCCTCATCGCCCAGGTGTTCGGCCTGGACTCCATCATGGGCAACAAGGACCTGTGGCCCCTGCTGCTGAGCATCATCTTCATCCCGGCCC
TGCTGCAGTGCATCGTGCTGCCCTTCTGCCCCGAGAGTCCCCGCTTCCTGCTCATCAACCGCAACGAGGAGAACCGGGCCAAGAGTGTGC
TAAAGAAGCTGCGCGGGACAGCTGACGTGACCCATGACCTGCAGGAGATGAAGGAAGAGAGTCGGCAGATGATGCGGGAGAAGAAGGTCA
CCATCCTGGAGCTGTTCCGCTCCCCCGCCTACCGCCAGCCCATCCTCATCGCTGTGGTGCTGCAGCTGTCCCAGCAGCTGTCTGGCATCA
ACGCTGTCTTCTATTACTCCACGAGCATCTTCGAGAAGGCGGGGGTGCAGCAGCCTGTGTATGCCACCATTGGCTCCGGTATCGTCAACA
CGGCCTTCACTGTCGTGTCGCTGTTTGTGGTGGAGCGAGCAGGCCGGCGGACCCTGCACCTCATAGGCCTCGCTGGCATGGCGGGTTGTG
CCATACTCATGACCATCGCGCTAGCACTGCTGGAGCAGCTACCCTGGATGTCCTATCTGAGCATCGTGGCCATCTTTGGCTTTGTGGCCT
TCTTTGAAGTGGGTCCTGGCCCCATCCCATGGTTCATCGTGGCTGAACTCTTCAGCCAGGGTCCACGTCCAGCTGCCATTGCCGTTGCAG
GCTTCTCCAACTGGACCTCAAATTTCATTGTGGGCATGTGCTTCCAGTATGTGGAGCAACTGTGTGGTCCCTACGTCTTCATCATCTTCA
CTGTGCTCCTGGTTCTGTTCTTCATCTTCACCTACTTCAAAGTTCCTGAGACTAAAGGCCGGACCTTCGATGAGATCGCTTCCGGCTTCC
GGCAGGGGGGAGCCAGCCAAAGTGACAAGACACCCGAGGAGCTGTTCCATCCCCTGGGGGCTGATTCCCAAGTGTGAGTCGCCCCAGATC
ACCAGCCCGGCCTGCTCCCAGCAGCCCTAAGGATCTCTCAGGAGCACAGGCAGCTGGATGAGACTTCCAAACCTGACAGATGTCAGCCGA
GCCGGGCCTGGGGCTCCTTTCTCCAGCCAGCAATGATGTCCAGAAGAATATTCAGGACTTAACGGCTCCAGGATTTTAACAAAAGCAAGA
CTGTTGCTCAAATCTATTCAGACAAGCAACAGGTTTTATAATTTTTTTATTACTGATTTTGTTATTTTTATATCAGCCTGAGTCTCCTGT
GCCCACATCCCAGGCTTCACCCTGAATGGTTCCATGCCTGAGGGTGGAGACTAAGCCCTGTCGAGACACTTGCCTTCTTCACCCAGCTAA
TCTGTAGGGCTGGACCTATGTCCTAAGGACACACTAATCGAACTATGAACTACAAAGCTTCTATCCCAGGAGGTGGCTATGGCCACCCGT
TCTGCTGGCCTGGATCTCCCCACTCTAGGGGTCAGGCTCCATTAGGATTTGCCCCTTCCCATCTCTTCCTACCCAACCACTCAAATTAAT
CTTTCTTTACCTGAGACCAGTTGGGAGCACTGGAGTGCAGGGAGGAGAGGGGAAGGGCCAGTCTGGGCTGCCGGGTTCTAGTCTCCTTTG
CACTGAGGGCCACACTATTACCATGAGAAGAGGGCCTGTGGGAGCCTGCAAACTCACTGCTCAAGAAGACATGGAGACTCCTGCCCTGTT
GTGTATAGATGCAAGATATTTATATATATTTTTGGTTGTCAATATTAAATACAGACACTAAGTTATAGTATATCTGGACAAGCCAACTTG
TAAATACACCACCTCACTCCTGTTACTTACCTAAACAGATATAAATGGCTGGTTTTTAGAAACATGGTTTTGAAATGCTTGTGGATTGAG
GGTAGGAGGTTTGGATGGGAGTGAGACAGAAGTAAGTGGGGTTGCAACCACTGCAACGGCTTAGACTTCGACTCAGGATCCAGTCCCTTA
CACGTACCTCTCATCAGTGTCCTCTTGCTCAAAAATCTGTTTGATCCCTGTTACCCAGAGAATATATACATTCTTTATCTTGACATTCAA
GGCATTTCTATCACATATTTGATAGTTGGTGTTCAAAAAAACACTAGTTTTGTGCCAGCCGTGATGCTCAGGCTTGAAATGCATTATTTT
GAATGTGAAGTAAATACTGTACCTTTATTGGACAGGCTCAAAGAGGTTATGTGCCTGAAGTCGCACAGTGAATAAGCTAAAACACCTGCT
TTTAACAATGGTACCATACAACCACTACTCCATTAACTCCACCCACCTCCTGCACCCCTCCCCACACACACAAAATGAACCACGTTCTTT
GTATGGGCCCAATGAGCTGTCAAGCTGCCCTGTGTTCATTTCATTTGGAATTGCCCCCTCTGGTTCCTCTGTATACTACTGCTTCATCTC
TAAAGACAGCTCATCCTCCTCCTTCACCCCTGAATTTCCAGAGCACTTCATCTGCTCCTTCATCACAAGTCCAGTTTTCTGCCACTAGTC
TGAATTTCATGAGAAGATGCCGATTTGGTTCCTGTGGGTCCTCAGCACTATTCAGTACAGTGCTTGATGCACAGCAGGCACTCAGAAAAT


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FusionGenePPI for DOK5_SLC2A1


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
DOK5BNIP3L, CCDC85B, RET, EGFR, OPRM1, DOK3, SCOC, OLIG1, WIZ, AHDC1, ATF3, CDCA4, FANCG, RAI2, TSC1SLC2A1COPS6, PDIA3, STOM, PTK2B, CANX, CALR, GIPC1, CD55, VCAM1, ATF2, ITGA4, VHL, TXNIP, ILK, IRAK1, JAK2, TYK2, HSPB2, STK17B, NCSTN, NEIL3, TRIM25


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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RelatedDrugs for DOK5_SLC2A1


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 DOK5_SLC2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDOK5C0005586Bipolar Disorder1PSYGENET
TgeneSLC2A1C1847501Glut1 Deficiency Syndrome14CTD_human;ORPHANET;UNIPROT
TgeneSLC2A1C1842534DYSTONIA 18 (disorder)11CTD_human;ORPHANET;UNIPROT
TgeneSLC2A1C3553859EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 124UNIPROT
TgeneSLC2A1C0008073Developmental Disabilities3CTD_human
TgeneSLC2A1C0036572Seizures3CTD_human;HPO
TgeneSLC2A1C0025958Microcephaly2CTD_human
TgeneSLC2A1C1837206Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly2ORPHANET;UNIPROT
TgeneSLC2A1C0004134Ataxia1CTD_human
TgeneSLC2A1C0007124Noninfiltrating Intraductal Carcinoma1CTD_human
TgeneSLC2A1C0007134Renal Cell Carcinoma1CTD_human
TgeneSLC2A1C0007621Neoplastic Cell Transformation1CTD_human
TgeneSLC2A1C0009375Colonic Neoplasms1CTD_human
TgeneSLC2A1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneSLC2A1C0023903Liver neoplasms1CTD_human
TgeneSLC2A1C0025521Inborn Errors of Metabolism1CTD_human
TgeneSLC2A1C0027765nervous system disorder1CTD_human
TgeneSLC2A1C0029408Degenerative polyarthritis1CTD_human
TgeneSLC2A1C0031149Peritoneal Neoplasms1CTD_human
TgeneSLC2A1C0345967Malignant mesothelioma1CTD_human
TgeneSLC2A1C0919267ovarian neoplasm1CTD_human
TgeneSLC2A1C1176475Ductal Carcinoma1CTD_human
TgeneSLC2A1C1458155Mammary Neoplasms1CTD_human
TgeneSLC2A1C2239176Liver carcinoma1CTD_human
TgeneSLC2A1C3714756Intellectual Disability1CTD_human;HPO