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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: 10747

FusionGeneSummary for DYNC1H1_CAST

check button Fusion gene summary
Fusion gene informationFusion gene name: DYNC1H1_CAST
Fusion gene ID: 10747
HgeneTgene
Gene symbol

DYNC1H1

CAST

Gene ID

1778

26059

Gene namedynein cytoplasmic 1 heavy chain 1ELKS/RAB6-interacting/CAST family member 2
SynonymsCMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22CAST|CAST1|ELKSL|SPBC110|Spc110
Cytomap

14q32.31

3p14.3

Type of geneprotein-codingprotein-coding
Descriptioncytoplasmic dynein 1 heavy chain 1dynein heavy chain, cytosolicdynein, cytoplasmic, heavy polypeptide 1ERC protein 2CAZ-associated structural proteincytomatrix protein p110
Modification date2018052320180519
UniProtAcc

Q14204

P20810

Ensembl transtripts involved in fusion geneENST00000360184, ENST00000556791, 
ENST00000338252, ENST00000508830, 
ENST00000359176, ENST00000395812, 
ENST00000325674, ENST00000395813, 
ENST00000510756, ENST00000508608, 
ENST00000341926, ENST00000511049, 
ENST00000309190, ENST00000509903, 
ENST00000511782, ENST00000504465, 
ENST00000348386, ENST00000508579, 
ENST00000515663, 
Fusion gene scores* DoF score17 X 15 X 7=178510 X 9 X 6=540
# samples 2012
** MAII scorelog2(20/1785*10)=-3.15785216914174
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DYNC1H1 [Title/Abstract] AND CAST [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
ChiTaRS3.1DW419036DYNC1H1chr14

102466438

+CASTchr5

96086345

+
* 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-frameENST00000360184ENST00000338252DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000508830DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000359176DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000395812DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000325674DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000395813DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000510756DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000508608DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000341926DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000511049DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000309190DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000509903DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000511782DYNC1H1chr14

102466438

+CASTchr5

96086345

+
In-frameENST00000360184ENST00000504465DYNC1H1chr14

102466438

+CASTchr5

96086345

+
5CDS-3UTRENST00000360184ENST00000348386DYNC1H1chr14

102466438

+CASTchr5

96086345

+
5CDS-3UTRENST00000360184ENST00000508579DYNC1H1chr14

102466438

+CASTchr5

96086345

+
5CDS-3UTRENST00000360184ENST00000515663DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000338252DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000508830DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000359176DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000395812DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000325674DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000395813DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000510756DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000508608DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000341926DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000511049DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000309190DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000509903DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000511782DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3CDSENST00000556791ENST00000504465DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3UTRENST00000556791ENST00000348386DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3UTRENST00000556791ENST00000508579DYNC1H1chr14

102466438

+CASTchr5

96086345

+
intron-3UTRENST00000556791ENST00000515663DYNC1H1chr14

102466438

+CASTchr5

96086345

+

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FusionProtFeatures for DYNC1H1_CAST


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DYNC1H1

Q14204

CAST

P20810

Cytoplasmic dynein 1 acts as a motor for theintracellular retrograde motility of vesicles and organelles alongmicrotubules. Dynein has ATPase activity; the force-producingpower stroke is thought to occur on release of ADP. Plays a rolein mitotic spindle assembly and metaphase plate congression(PubMed:27462074). {ECO:0000269|PubMed:27462074}.

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
TgeneCASTchr14:102466438chr5:96086345ENST00000309190+029170_222-521330RepeatNote=Inhibitory domain 1
TgeneCASTchr14:102466438chr5:96086345ENST00000309190+029304_356-521330RepeatNote=Inhibitory domain 2
TgeneCASTchr14:102466438chr5:96086345ENST00000309190+029446_499-521330RepeatNote=Inhibitory domain 3
TgeneCASTchr14:102466438chr5:96086345ENST00000309190+029583_636-521330RepeatNote=Inhibitory domain 4
TgeneCASTchr14:102466438chr5:96086345ENST00000325674+030170_222-621351RepeatNote=Inhibitory domain 1
TgeneCASTchr14:102466438chr5:96086345ENST00000325674+030304_356-621351RepeatNote=Inhibitory domain 2
TgeneCASTchr14:102466438chr5:96086345ENST00000325674+030446_499-621351RepeatNote=Inhibitory domain 3
TgeneCASTchr14:102466438chr5:96086345ENST00000325674+030583_636-621351RepeatNote=Inhibitory domain 4
TgeneCASTchr14:102466438chr5:96086345ENST00000338252+031170_222-89863RepeatNote=Inhibitory domain 1
TgeneCASTchr14:102466438chr5:96086345ENST00000338252+031304_356-89863RepeatNote=Inhibitory domain 2
TgeneCASTchr14:102466438chr5:96086345ENST00000338252+031446_499-89863RepeatNote=Inhibitory domain 3
TgeneCASTchr14:102466438chr5:96086345ENST00000338252+031583_636-89863RepeatNote=Inhibitory domain 4
TgeneCASTchr14:102466438chr5:96086345ENST00000341926+030170_222-54726RepeatNote=Inhibitory domain 1
TgeneCASTchr14:102466438chr5:96086345ENST00000341926+030304_356-54726RepeatNote=Inhibitory domain 2
TgeneCASTchr14:102466438chr5:96086345ENST00000341926+030446_499-54726RepeatNote=Inhibitory domain 3
TgeneCASTchr14:102466438chr5:96086345ENST00000341926+030583_636-54726RepeatNote=Inhibitory domain 4
TgeneCASTchr14:102466438chr5:96086345ENST00000359176+031170_222-621367RepeatNote=Inhibitory domain 1
TgeneCASTchr14:102466438chr5:96086345ENST00000359176+031304_356-621367RepeatNote=Inhibitory domain 2
TgeneCASTchr14:102466438chr5:96086345ENST00000359176+031446_499-621367RepeatNote=Inhibitory domain 3
TgeneCASTchr14:102466438chr5:96086345ENST00000359176+031583_636-621367RepeatNote=Inhibitory domain 4
TgeneCASTchr14:102466438chr5:96086345ENST00000395812+030170_222-621345RepeatNote=Inhibitory domain 1
TgeneCASTchr14:102466438chr5:96086345ENST00000395812+030304_356-621345RepeatNote=Inhibitory domain 2
TgeneCASTchr14:102466438chr5:96086345ENST00000395812+030446_499-621345RepeatNote=Inhibitory domain 3
TgeneCASTchr14:102466438chr5:96086345ENST00000395812+030583_636-621345RepeatNote=Inhibitory domain 4
TgeneCASTchr14:102466438chr5:96086345ENST00000395813+032170_222-621386RepeatNote=Inhibitory domain 1
TgeneCASTchr14:102466438chr5:96086345ENST00000395813+032304_356-621386RepeatNote=Inhibitory domain 2
TgeneCASTchr14:102466438chr5:96086345ENST00000395813+032446_499-621386RepeatNote=Inhibitory domain 3
TgeneCASTchr14:102466438chr5:96086345ENST00000395813+032583_636-621386RepeatNote=Inhibitory domain 4
TgeneCASTchr14:102466438chr5:96086345ENST00000508830+032170_222-55792RepeatNote=Inhibitory domain 1
TgeneCASTchr14:102466438chr5:96086345ENST00000508830+032304_356-55792RepeatNote=Inhibitory domain 2
TgeneCASTchr14:102466438chr5:96086345ENST00000508830+032446_499-55792RepeatNote=Inhibitory domain 3
TgeneCASTchr14:102466438chr5:96086345ENST00000508830+032583_636-55792RepeatNote=Inhibitory domain 4

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


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FusionGeneSequence for DYNC1H1_CAST


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_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000338252_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000508830_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000359176_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000395812_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000325674_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000395813_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000510756_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000508608_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000341926_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000511049_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000309190_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000509903_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000511782_chr5_96086345_+_0aa

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000504465_chr5_96086345_+_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000338252_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000508830_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000359176_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000395812_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000325674_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000395813_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000510756_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000508608_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000341926_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000511049_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000309190_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000509903_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000511782_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000504465_chr5_96086345_+_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000338252_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000508830_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000359176_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000395812_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000325674_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000395813_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000510756_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000508608_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000341926_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000511049_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000309190_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000509903_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000511782_chr5_96086345_+_0nt

>In-frame_DYNC1H1_ENST00000360184_chr14_102466438_+_CAST_ENST00000504465_chr5_96086345_+_0nt


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FusionGenePPI for DYNC1H1_CAST


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

ChiPPI page

.

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


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


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


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


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RelatedDrugs for DYNC1H1_CAST


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCASTP20810DB11638ArtenimolCalpastatinsmall moleculeapproved|investigational
TgeneCASTP20810DB01373CalciumCalpastatinsmall moleculeapproved|nutraceutical

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RelatedDiseases for DYNC1H1_CAST


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDYNC1H1C3280220CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O4ORPHANET;UNIPROT
HgeneDYNC1H1C3281202MENTAL RETARDATION, AUTOSOMAL DOMINANT 134UNIPROT
HgeneDYNC1H1C1834690Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant2ORPHANET;UNIPROT
HgeneDYNC1H1C0025958Microcephaly1CTD_human
HgeneDYNC1H1C1955869Malformations of Cortical Development1CTD_human
HgeneDYNC1H1C3714756Intellectual Disability1CTD_human;HPO
TgeneCASTC0027540Necrosis1CTD_human
TgeneCASTC0162557Liver Failure, Acute1CTD_human