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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: 32538

FusionGeneSummary for SACS_MYO16

check button Fusion gene summary
Fusion gene informationFusion gene name: SACS_MYO16
Fusion gene ID: 32538
HgeneTgene
Gene symbol

SACS

MYO16

Gene ID

26278

23026

Gene namesacsin molecular chaperonemyosin XVI
SynonymsARSACS|DNAJC29|PPP1R138|SPAX6MYAP3|MYR8|Myo16b|NYAP3|PPP1R107
Cytomap

13q12.12

13q33.3

Type of geneprotein-codingprotein-coding
DescriptionsacsindnaJ homolog subfamily C member 29protein phosphatase 1, regulatory subunit 138spastic ataxia of Charlevoix-Saguenay (sacsin)unconventional myosin-XVIMYO16 variant proteinmyosin heavy chain Myr 8neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 3neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3protein phosphatase 1, regulatory subunit 10
Modification date2018051920180519
UniProtAcc

Q9NZJ4

Q9Y6X6

Ensembl transtripts involved in fusion geneENST00000382298, ENST00000402364, 
ENST00000382292, ENST00000476776, 
ENST00000356711, ENST00000251041, 
ENST00000357550, ENST00000457511, 
ENST00000467639, 
Fusion gene scores* DoF score3 X 2 X 3=1810 X 8 X 9=720
# samples 310
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/720*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SACS [Title/Abstract] AND MYO16 [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
TCGARVSARCTCGA-PC-A5DM-01ASACSchr13

23985359

-MYO16chr13

109831890

+
* 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-frameENST00000382298ENST00000356711SACSchr13

23985359

-MYO16chr13

109831890

+
5CDS-intronENST00000382298ENST00000251041SACSchr13

23985359

-MYO16chr13

109831890

+
5CDS-intronENST00000382298ENST00000357550SACSchr13

23985359

-MYO16chr13

109831890

+
5CDS-intronENST00000382298ENST00000457511SACSchr13

23985359

-MYO16chr13

109831890

+
5CDS-intronENST00000382298ENST00000467639SACSchr13

23985359

-MYO16chr13

109831890

+
intron-3CDSENST00000402364ENST00000356711SACSchr13

23985359

-MYO16chr13

109831890

+
intron-intronENST00000402364ENST00000251041SACSchr13

23985359

-MYO16chr13

109831890

+
intron-intronENST00000402364ENST00000357550SACSchr13

23985359

-MYO16chr13

109831890

+
intron-intronENST00000402364ENST00000457511SACSchr13

23985359

-MYO16chr13

109831890

+
intron-intronENST00000402364ENST00000467639SACSchr13

23985359

-MYO16chr13

109831890

+
Frame-shiftENST00000382292ENST00000356711SACSchr13

23985359

-MYO16chr13

109831890

+
5CDS-intronENST00000382292ENST00000251041SACSchr13

23985359

-MYO16chr13

109831890

+
5CDS-intronENST00000382292ENST00000357550SACSchr13

23985359

-MYO16chr13

109831890

+
5CDS-intronENST00000382292ENST00000457511SACSchr13

23985359

-MYO16chr13

109831890

+
5CDS-intronENST00000382292ENST00000467639SACSchr13

23985359

-MYO16chr13

109831890

+
intron-3CDSENST00000476776ENST00000356711SACSchr13

23985359

-MYO16chr13

109831890

+
intron-intronENST00000476776ENST00000251041SACSchr13

23985359

-MYO16chr13

109831890

+
intron-intronENST00000476776ENST00000357550SACSchr13

23985359

-MYO16chr13

109831890

+
intron-intronENST00000476776ENST00000457511SACSchr13

23985359

-MYO16chr13

109831890

+
intron-intronENST00000476776ENST00000467639SACSchr13

23985359

-MYO16chr13

109831890

+

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FusionProtFeatures for SACS_MYO16


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

Q9NZJ4

MYO16

Q9Y6X6

Co-chaperone which acts as a regulator of the Hsp70chaperone machinery and may be involved in the processing of otherataxia-linked proteins. {ECO:0000269|PubMed:19208651}.

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
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+0241389_1671-14941Compositional biasPro-rich
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+0241147_1176-14941DomainIQ
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+024401_1145-14941DomainMyosin motor
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+024497_504-14941Nucleotide bindingATP
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+0241111_1377-14941RegionInvolved in CYFIP1- and NCKAP1-binding
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+024125_154-14941RepeatANK 3
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+024158_189-14941RepeatANK 4
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+024191_217-14941RepeatANK 5
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+024221_250-14941RepeatANK 6
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+024254_283-14941RepeatANK 7
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+02459_88-14941RepeatANK 1
TgeneMYO16chr13:23985359chr13:109831890ENST00000251041+02492_121-14941RepeatANK 2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSACSchr13:23985359chr13:109831890ENST00000382292-194306_439364580DomainJ
HgeneSACSchr13:23985359chr13:109831890ENST00000382292-194451_456764580DomainHEPN
HgeneSACSchr13:23985359chr13:109831890ENST00000382292-199_8464580DomainUbiquitin-like
HgeneSACSchr13:23985359chr13:109831890ENST00000382298-2104306_439364580DomainJ
HgeneSACSchr13:23985359chr13:109831890ENST00000382298-2104451_456764580DomainHEPN
HgeneSACSchr13:23985359chr13:109831890ENST00000382298-2109_8464580DomainUbiquitin-like
HgeneSACSchr13:23985359chr13:109831890ENST00000402364-184306_4393-7783830DomainJ
HgeneSACSchr13:23985359chr13:109831890ENST00000402364-184451_4567-7783830DomainHEPN
HgeneSACSchr13:23985359chr13:109831890ENST00000402364-189_84-7783830DomainUbiquitin-like
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+32351389_167117521859Compositional biasPro-rich
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+31341389_167117521859Compositional biasPro-rich
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+32351147_117617521859DomainIQ
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+3235401_114517521859DomainMyosin motor
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+31341147_117617521859DomainIQ
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+3134401_114517521859DomainMyosin motor
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+3235497_50417521859Nucleotide bindingATP
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+3134497_50417521859Nucleotide bindingATP
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+32351111_137717521859RegionInvolved in CYFIP1- and NCKAP1-binding
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+31341111_137717521859RegionInvolved in CYFIP1- and NCKAP1-binding
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+3235125_15417521859RepeatANK 3
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+3235158_18917521859RepeatANK 4
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+3235191_21717521859RepeatANK 5
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+3235221_25017521859RepeatANK 6
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+3235254_28317521859RepeatANK 7
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+323559_8817521859RepeatANK 1
TgeneMYO16chr13:23985359chr13:109831890ENST00000356711+323592_12117521859RepeatANK 2
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+3134125_15417521859RepeatANK 3
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+3134158_18917521859RepeatANK 4
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+3134191_21717521859RepeatANK 5
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+3134221_25017521859RepeatANK 6
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+3134254_28317521859RepeatANK 7
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+313459_8817521859RepeatANK 1
TgeneMYO16chr13:23985359chr13:109831890ENST00000357550+313492_12117521859RepeatANK 2


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FusionGeneSequence for SACS_MYO16


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_SACS_ENST00000382298_chr13_23985359_-_MYO16_ENST00000356711_chr13_109831890_+_113aa
METKENRFTXRRWILTVVYKWHRDFDISKTQGQSHHSGNPSAEALREXKCGPAGTLGLEEKALXGRTRLAADPAPRXAQGASPTTLQEAQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SACS_ENST00000382298_chr13_23985359_-_MYO16_ENST00000356711_chr13_109831890_+_340nt
ATGGAGACCAAGGAGAACAGGTTTACCTGAAGAAGATGGATACTCACGGTTGTCTATAAGTGGCACAGGGACTTCGACATTTCAAAGACA
CAGGGACAGTCACACCACTCAGGTAATCCATCAGCTGAGGCTCTCAGAGAATGAAAGTGTGGCCCTGCAGGAACTCTTGGACTGGAGGAG
AAAGCTCTGTGAGGAAGGACAAGACTGGCAGCAGATCCTGCACCACGCTGAGCCCAGGGTGCCTCCCCCACCACCTTGCAAGAAGCCCAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_SACS_ENST00000382298_chr13_23985359_-_MYO16_ENST00000356711_chr13_109831890_+_2100nt
AGTGCGGCTGCGGGACAGTCACGCTGGGAACTGCTGATGGCACTGGAGGAAAACAAAGGCCGAGAGACCCTGATGCCCACAGCCCCCAGA
TCACAGAAGTGAGGCCAAGATGCCCATGTCACCAGAGCCAGAAGAAAGGCTCCTACCAAAGAATATTTTACATCTGCTGAGATGAGGGTG
AGAAACAAAATCCAAGAATTTCTGCGACGTTTTCCCCAAGAACCTTCAAAAAGAAATACAGAAAATTCTCAGATGAAAATAAATTGATTT
TGCTCTGGGGGAAAGCCAAAAACCTTTAGCGAATCCACACTGTTTTATCCTGAGAACTTCCATGGGTCGCTGGATCAGCAGGCAACCATT
ATCAGACTGGAGAGTCATACTTTAAGGAATACAAATGCAACACACGACAATGTTTCCTGACATCAGATGATGAATGGACACTGAAGGGAA
AAACAGGCTTTTTTTCCACCTGGCAGGAAGAGCTGAACTTGGAGTACACATTTAAAGGAAGCACAGAGGGAAGACTTAAACAGAAGAAAG
AAGCGTACTTTCATGGTTTTCACAAACAAATATCCCAGGAGAAGTGATCATGGAGACCAAGGAGAACAGGTTTACCTGAAGAAGATGGAT
ACTCACGGTTGTCTATAAGTGGCACAGGGACTTCGACATTTCAAAGACACAGGGACAGTCACACCACTCAGGTAATCCATCAGCTGAGGC
TCTCAGAGAATGAAAGTGTGGCCCTGCAGGAACTCTTGGACTGGAGGAGAAAGCTCTGTGAGGAAGGACAAGACTGGCAGCAGATCCTGC
ACCACGCTGAGCCCAGGGTGCCTCCCCCACCACCTTGCAAGAAGCCCAGCCTTCTGAAGAAGCCGGAAGGGGCCTCCTGCAACAGGCTGC
CGTCTGAGCTCTGGGACACCACCATTTGATGTGGCCTGAACTGCAGACTTACAAAATAGAACTGCCTACTGATTCCGGGCTGCAACAACA
GAAGGCTGCCTTCTGACATGCGCTGGGGCTTCTCTCCACGCATTTAGACAAAAAAAGCACAGGACACAGACACTAAATATATGAGATCCC
GTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGGGTTCTTTCTTATCCATCTCGTGGTGATACACTCTGATTTTCAAGCTCCTCATTT
ACGGCTCTGTGCTACCCCTAGGTAGCAAGAGAGAGGCTGGGAAAAGTGTGGACGTGGCCAGAGCGAGAGAGTAGCGGAGGAAAGGAGCAA
TCCATGCACACTCTGTACAGTTGTTTTTCTACGGTTCAACAGTCTGTTTATTGTACTTCCAATGGTTTTATTATAATACAGTATACGGGA
CATATATTTTATTTCTTTGTAGCTACTTGTGTTTTATTGGTATTATAAACCTGATAATTATTTACATGTTTATTACTGTAATTTTATAAA
TTTATGCAATTGGTGGTGCTTCCTTTCTTCAAAATACAGATTTTAAAAAATCATTTCTAGATTATTTTTTTCCTCCACAGTCCTTTTTTT
TCACCTAACGCACCTAAATCTTGAAACTACATTGTTGTTTTAGCTTCGCCAGTGTCACCCCTTGCAAAACTATGAATTGAGCCCCATGTT
TTAGGTGTTACTCATGGATGAGGAGGCTGTTCTTTCCTATGCCCTGTATTTCTGGATAAGTGGATTGTGTACCCTTTAGTTAAATTTCAC
CTCCCGACTTCAGCATAGATCACAGGAAATCACATGGCACACGGTTAAACACGTATGGCTTCAAATCCATAGCCGGTGGTGTAAAATGAT
CATATTCATTCAAAGGCCTACACAGTACAAATGAGCACGCTGCCATGTACTGGTTTGAGCAGTAGGGGCTGCATCGCACAGCGCTCGTCC
CCCGGGACTTACACTGCATGATTCCCTCACTGTATATCCTCAACCCTCCCATAATGCAAGGCCTTGTTCATTGATGTGCTTTCGTCGGCT
GTCGGAAAGTTCTGAGCAGTGGCTCCAGACCACCTTGTCTTGCTACTTGGAACTTTTTATTCATACCAGCCTTTGAAAAGTTACTGTGCC


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FusionGenePPI for SACS_MYO16


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
SACSPSMA3, TSC22D4, ZNRD1, ACTN4, PICK1, ALB, TP63, UBE3A, CCDC8, ENPP6, TP53, PLK1, TRIM29, ATOH1, MOCS3, TRIM25, FBXL13MYO16NRXN1, NCKAP1, CYFIP2, CYFIP1, PIK3R1, ARHGAP26, ACOT9


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 SACS_MYO16


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 SACS_MYO16


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSACSC1849140SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE11CTD_human;ORPHANET;UNIPROT
HgeneSACSC0751778Myoclonic Epilepsies, Progressive1CTD_human
TgeneMYO16C0036341Schizophrenia1PSYGENET