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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: 18639

FusionGeneSummary for KIAA0947_TERT

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0947_TERT
Fusion gene ID: 18639
HgeneTgene
Gene symbol

KIAA0947

TERT

Gene ID

23379

7015

Gene nameinteractor of little elongation complex ELL subunit 1telomerase reverse transcriptase
SynonymsKIAA0947CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT
Cytomap

5p15.32

5p15.33

Type of geneprotein-codingprotein-coding
Descriptionlittle elongation complex subunit 1interactor of little elongator complex ELL subunit 1telomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2
Modification date2018051920180527
UniProtAcc

O14746

Ensembl transtripts involved in fusion geneENST00000512608, ENST00000296564, 
ENST00000310581, ENST00000296820, 
ENST00000334602, ENST00000508104, 
ENST00000522877, 
Fusion gene scores* DoF score1 X 1 X 1=119 X 3 X 14=798
# samples 126
** MAII scorelog2(1/1*10)=3.32192809488736log2(26/798*10)=-1.61787712319389
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA0947 [Title/Abstract] AND TERT [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
TgeneTERT

GO:0001172

transcription, RNA-templated

19701182

TgeneTERT

GO:0006278

RNA-dependent DNA biosynthetic process

9398860

TgeneTERT

GO:0007004

telomere maintenance via telomerase

9443919|16043710|17940095|19701182|21531765

TgeneTERT

GO:0007005

mitochondrion organization

21937513

TgeneTERT

GO:0010629

negative regulation of gene expression

11927518

TgeneTERT

GO:0022616

DNA strand elongation

16043710

TgeneTERT

GO:0030422

production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:0031647

regulation of protein stability

24415760|26194824

TgeneTERT

GO:0032092

positive regulation of protein binding

24415760

TgeneTERT

GO:0032774

RNA biosynthetic process

19701182

TgeneTERT

GO:0051000

positive regulation of nitric-oxide synthase activity

11927518

TgeneTERT

GO:0070200

establishment of protein localization to telomere

25589350

TgeneTERT

GO:0071897

DNA biosynthetic process

9398860|19701182

TgeneTERT

GO:1903704

negative regulation of production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:1904751

positive regulation of protein localization to nucleolus

24415760

TgeneTERT

GO:2000773

negative regulation of cellular senescence

11927518


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
TCGARVLIHCTCGA-DD-AACS-01AKIAA0947chr5

5448010

+TERTchr5

1282739

-
* 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
3UTR-3CDSENST00000512608ENST00000310581KIAA0947chr5

5448010

+TERTchr5

1282739

-
3UTR-3CDSENST00000512608ENST00000296820KIAA0947chr5

5448010

+TERTchr5

1282739

-
3UTR-3CDSENST00000512608ENST00000334602KIAA0947chr5

5448010

+TERTchr5

1282739

-
3UTR-3CDSENST00000512608ENST00000508104KIAA0947chr5

5448010

+TERTchr5

1282739

-
3UTR-intronENST00000512608ENST00000522877KIAA0947chr5

5448010

+TERTchr5

1282739

-
In-frameENST00000296564ENST00000310581KIAA0947chr5

5448010

+TERTchr5

1282739

-
Frame-shiftENST00000296564ENST00000296820KIAA0947chr5

5448010

+TERTchr5

1282739

-
In-frameENST00000296564ENST00000334602KIAA0947chr5

5448010

+TERTchr5

1282739

-
In-frameENST00000296564ENST00000508104KIAA0947chr5

5448010

+TERTchr5

1282739

-
5CDS-intronENST00000296564ENST00000522877KIAA0947chr5

5448010

+TERTchr5

1282739

-

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FusionProtFeatures for KIAA0947_TERT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA0947

TERT

O14746

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Telomerase is a ribonucleoprotein enzyme essential forthe replication of chromosome termini in most eukaryotes. Activein progenitor and cancer cells. Inactive, or very low activity, innormal somatic cells. Catalytic component of the teleromeraseholoenzyme complex whose main activity is the elongation oftelomeres by acting as a reverse transcriptase that adds simplesequence repeats to chromosome ends by copying a template sequencewithin the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalyticcycle involves primer binding, primer extension and release ofproduct once the template boundary has been reached or nascentproduct translocation followed by further extension. More activeon substrates containing 2 or 3 telomeric repeats. Telomeraseactivity is regulated by a number of factors including telomerasecomplex-associated proteins, chaperones and polypeptide modifiers.Modulates Wnt signaling. Plays important roles in aging andantiapoptosis. {ECO:0000269|PubMed:14963003,ECO:0000269|PubMed:15082768, ECO:0000269|PubMed:15857955,ECO:0000269|PubMed:17026956, ECO:0000269|PubMed:17264120,ECO:0000269|PubMed:17296728, ECO:0000269|PubMed:17548608,ECO:0000269|PubMed:19188162, ECO:0000269|PubMed:19567472,ECO:0000269|PubMed:19571879, ECO:0000269|PubMed:19777057,ECO:0000269|PubMed:9389643}.

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

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


Top

FusionGeneSequence for KIAA0947_TERT


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_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000310581_chr5_1282739_-_810aa
MMPGETHSAAPGTAADLSRCQGCASLQQNLNEYVEALITLKQKIINTDNLLTEYQKKCDELQFARRENSNLHHQVEEMLQKISPLQKCQE
ELGSLKAELEEKKSSLKLYQDTHQEYARVKEECLKSDAQKKKLEAKVKKLQEAAVKQTQDFKQLRNEKKILEKEFKKTQERLDEFSKQKN
EKELRHIGTQISSDSYGSIDKRVGCVPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHL
KRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGL
DDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYM
RQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLL
LRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNLRKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTS
IRASLTFNRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLC
YSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPSDFKTILDX

>In-frame_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000334602_chr5_1282739_-_747aa
MMPGETHSAAPGTAADLSRCQGCASLQQNLNEYVEALITLKQKIINTDNLLTEYQKKCDELQFARRENSNLHHQVEEMLQKISPLQKCQE
ELGSLKAELEEKKSSLKLYQDTHQEYARVKEECLKSDAQKKKLEAKVKKLQEAAVKQTQDFKQLRNEKKILEKEFKKTQERLDEFSKQKN
EKELRHIGTQISSDSYGSIDKRVGCVPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHL
KRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGL
DDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYM
RQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLL
LRLVDDFLLVTPHLTHAKTFLSYARTSIRASLTFNRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACV
LQLPFHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKLTRHRVTYVPLLGSLRTAQTQLSRK

>In-frame_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000508104_chr5_1282739_-_485aa
MMPGETHSAAPGTAADLSRCQGCASLQQNLNEYVEALITLKQKIINTDNLLTEYQKKCDELQFARRENSNLHHQVEEMLQKISPLQKCQE
ELGSLKAELEEKKSSLKLYQDTHQEYARVKEECLKSDAQKKKLEAKVKKLQEAAVKQTQDFKQLRNEKKILEKEFKKTQERLDEFSKQKN
EKELRHIGTQISSDSYGSIDKRVGCVPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHL
KRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGL
DDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVLRPVPGDPAG


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000310581_chr5_1282739_-_2430nt
ATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGACCTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTG
AATGAATATGTTGAAGCATTAATTACCTTGAAACAAAAAATTATCAATACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAG
CTGCAGTTTGCAAGAAGAGAGAATAGTAATCTGCATCACCAAGTGGAAGAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAA
GAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCTTTAAAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAG
GAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAGGTGAAGAAGCTGCAAGAGGCTGCTGTCAAGCAAACTCAGGAC
TTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAGAAGACACAGGAAAGGCTTGACGAATTTTCTAAACAGAAAAAT
GAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATATGGAAGCATAGATAAAAGGGTTGGCTGTGTTCCGGCCGCAGAG
CACCGTCTGCGTGAGGAGATCCTGGCCAAGTTCCTGCACTGGCTGATGAGTGTGTACGTCGTCGAGCTGCTCAGGTCTTTCTTTTATGTC
ACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGTGTCTGGAGCAAGTTGCAAAGCATTGGAATCAGACAGCACTTG
AAGAGGGTGCAGCTGCGGGAGCTGTCGGAAGCAGAGGTCAGGCAGCATCGGGAAGCCAGGCCCGCCCTGCTGACGTCCAGACTCCGCTTC
ATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTCGTGGGAGCCAGAACGTTCCGCAGAGAAAAGAGGGCCGAGCGT
CTCACCTCGAGGGTGAAGGCACTGTTCAGCGTGCTCAACTACGAGCGGGCGCGGCGCCCCGGCCTCCTGGGCGCCTCTGTGCTGGGCCTG
GACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAGGACCCGCCGCCTGAGCTGTACTTTGTCAAGGTGGATGTG
ACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGG
TATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTCAAGAGCCACGTCTCTACCTTGACAGACCTCCAGCCGTACATG
CGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGAGCTCCTCCCTGAATGAGGCCAGCAGT
GGCCTCTTCGACGTCTTCCTACGCTTCATGTGCCACCACGCCGTGCGCATCAGGGGCAAGTCCTACGTCCAGTGCCAGGGGATCCCGCAG
GGCTCCATCCTCTCCACGCTGCTCTGCAGCCTGTGCTACGGCGACATGGAGAACAAGCTGTTTGCGGGGATTCGGCGGGACGGGCTGCTC
CTGCGTTTGGTGGATGATTTCTTGTTGGTGACACCTCACCTCACCCACGCGAAAACCTTCCTCAGGACCCTGGTCCGAGGTGTCCCTGAG
TATGGCTGCGTGGTGAACTTGCGGAAGACAGTGGTGAACTTCCCTGTAGAAGACGAGGCCCTGGGTGGCACGGCTTTTGTTCAGATGCCG
GCCCACGGCCTATTCCCCTGGTGCGGCCTGCTGCTGGATACCCGGACCCTGGAGGTGCAGAGCGACTACTCCAGCTATGCCCGGACCTCC
ATCAGAGCCAGTCTCACCTTCAACCGCGGCTTCAAGGCTGGGAGGAACATGCGTCGCAAACTCTTTGGGGTCTTGCGGCTGAAGTGTCAC
AGCCTGTTTCTGGATTTGCAGGTGAACAGCCTCCAGACGGTGTGCACCAACATCTACAAGATCCTCCTGCTGCAGGCGTACAGGTTTCAC
GCATGTGTGCTGCAGCTCCCATTTCATCAGCAAGTTTGGAAGAACCCCACATTTTTCCTGCGCGTCATCTCTGACACGGCCTCCCTCTGC
TACTCCATCCTGAAAGCCAAGAACGCAGGGATGTCGCTGGGGGCCAAGGGCGCCGCCGGCCCTCTGCCCTCCGAGGCCGTGCAGTGGCTG
TGCCACCAAGCATTCCTGCTCAAGCTGACTCGACACCGTGTCACCTACGTGCCACTCCTGGGGTCACTCAGGACAGCCCAGACGCAGCTG
AGTCGGAAGCTCCCGGGGACGACGCTGACTGCCCTGGAGGCCGCAGCCAACCCGGCACTGCCCTCAGACTTCAAGACCATCCTGGACTGA

>In-frame_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000334602_chr5_1282739_-_2241nt
ATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGACCTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTG
AATGAATATGTTGAAGCATTAATTACCTTGAAACAAAAAATTATCAATACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAG
CTGCAGTTTGCAAGAAGAGAGAATAGTAATCTGCATCACCAAGTGGAAGAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAA
GAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCTTTAAAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAG
GAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAGGTGAAGAAGCTGCAAGAGGCTGCTGTCAAGCAAACTCAGGAC
TTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAGAAGACACAGGAAAGGCTTGACGAATTTTCTAAACAGAAAAAT
GAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATATGGAAGCATAGATAAAAGGGTTGGCTGTGTTCCGGCCGCAGAG
CACCGTCTGCGTGAGGAGATCCTGGCCAAGTTCCTGCACTGGCTGATGAGTGTGTACGTCGTCGAGCTGCTCAGGTCTTTCTTTTATGTC
ACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGTGTCTGGAGCAAGTTGCAAAGCATTGGAATCAGACAGCACTTG
AAGAGGGTGCAGCTGCGGGAGCTGTCGGAAGCAGAGGTCAGGCAGCATCGGGAAGCCAGGCCCGCCCTGCTGACGTCCAGACTCCGCTTC
ATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTCGTGGGAGCCAGAACGTTCCGCAGAGAAAAGAGGGCCGAGCGT
CTCACCTCGAGGGTGAAGGCACTGTTCAGCGTGCTCAACTACGAGCGGGCGCGGCGCCCCGGCCTCCTGGGCGCCTCTGTGCTGGGCCTG
GACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAGGACCCGCCGCCTGAGCTGTACTTTGTCAAGGTGGATGTG
ACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGG
TATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTCAAGAGCCACGTCTCTACCTTGACAGACCTCCAGCCGTACATG
CGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGAGCTCCTCCCTGAATGAGGCCAGCAGT
GGCCTCTTCGACGTCTTCCTACGCTTCATGTGCCACCACGCCGTGCGCATCAGGGGCAAGTCCTACGTCCAGTGCCAGGGGATCCCGCAG
GGCTCCATCCTCTCCACGCTGCTCTGCAGCCTGTGCTACGGCGACATGGAGAACAAGCTGTTTGCGGGGATTCGGCGGGACGGGCTGCTC
CTGCGTTTGGTGGATGATTTCTTGTTGGTGACACCTCACCTCACCCACGCGAAAACCTTCCTCAGCTATGCCCGGACCTCCATCAGAGCC
AGTCTCACCTTCAACCGCGGCTTCAAGGCTGGGAGGAACATGCGTCGCAAACTCTTTGGGGTCTTGCGGCTGAAGTGTCACAGCCTGTTT
CTGGATTTGCAGGTGAACAGCCTCCAGACGGTGTGCACCAACATCTACAAGATCCTCCTGCTGCAGGCGTACAGGTTTCACGCATGTGTG
CTGCAGCTCCCATTTCATCAGCAAGTTTGGAAGAACCCCACATTTTTCCTGCGCGTCATCTCTGACACGGCCTCCCTCTGCTACTCCATC
CTGAAAGCCAAGAACGCAGGGATGTCGCTGGGGGCCAAGGGCGCCGCCGGCCCTCTGCCCTCCGAGGCCGTGCAGTGGCTGTGCCACCAA
GCATTCCTGCTCAAGCTGACTCGACACCGTGTCACCTACGTGCCACTCCTGGGGTCACTCAGGACAGCCCAGACGCAGCTGAGTCGGAAG

>In-frame_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000508104_chr5_1282739_-_1455nt
ATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGACCTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTG
AATGAATATGTTGAAGCATTAATTACCTTGAAACAAAAAATTATCAATACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAG
CTGCAGTTTGCAAGAAGAGAGAATAGTAATCTGCATCACCAAGTGGAAGAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAA
GAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCTTTAAAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAG
GAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAGGTGAAGAAGCTGCAAGAGGCTGCTGTCAAGCAAACTCAGGAC
TTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAGAAGACACAGGAAAGGCTTGACGAATTTTCTAAACAGAAAAAT
GAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATATGGAAGCATAGATAAAAGGGTTGGCTGTGTTCCGGCCGCAGAG
CACCGTCTGCGTGAGGAGATCCTGGCCAAGTTCCTGCACTGGCTGATGAGTGTGTACGTCGTCGAGCTGCTCAGGTCTTTCTTTTATGTC
ACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGTGTCTGGAGCAAGTTGCAAAGCATTGGAATCAGACAGCACTTG
AAGAGGGTGCAGCTGCGGGAGCTGTCGGAAGCAGAGGTCAGGCAGCATCGGGAAGCCAGGCCCGCCCTGCTGACGTCCAGACTCCGCTTC
ATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTCGTGGGAGCCAGAACGTTCCGCAGAGAAAAGAGGGCCGAGCGT
CTCACCTCGAGGGTGAAGGCACTGTTCAGCGTGCTCAACTACGAGCGGGCGCGGCGCCCCGGCCTCCTGGGCGCCTCTGTGCTGGGCCTG
GACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAGGACCCGCCGCCTGAGCTGTACTTTGTCAAGGTGGATGTG
ACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGG
TATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTCAAGAGCCACGTCCTACGTCCAGTGCCAGGGGATCCCGCAGGG
CTCCATCCTCTCCACGCTGCTCTGCAGCCTGTGCTACGGCGACATGGAGAACAAGCTGTTTGCGGGGATTCGGCGGGACGGGCTGCTCCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000310581_chr5_1282739_-_3213nt
GGGGCCGCGCCGGGTAGCGTTTCTTTTTAGTGCCTGAGGCAGCTCTGGCTCGGAGAGCCTTTTGCTAGCCCCACGGGGACCTCTGTGCAC
GGATGGACCCGCCCGGACCTGGCGGGAAGCGGCCTGGCAGGCGGCGGCCCCGGCGGCATCAGCAGAGACAGGACGGGGCCGACGCCGCGG
GCCCCTGAGGCGTGCGTGCCCACCGGGCCCGGCGGCGGCACCATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGAC
CTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTGAATGAATATGTTGAAGCATTAATTACCTTGAAACAAAAAATTATCAAT
ACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAGCTGCAGTTTGCAAGAAGAGAGAATAGTAATCTGCATCACCAAGTGGAA
GAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAAGAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCTTTA
AAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAGGAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAG
GTGAAGAAGCTGCAAGAGGCTGCTGTCAAGCAAACTCAGGACTTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAG
AAGACACAGGAAAGGCTTGACGAATTTTCTAAACAGAAAAATGAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATAT
GGAAGCATAGATAAAAGGGTTGGCTGTGTTCCGGCCGCAGAGCACCGTCTGCGTGAGGAGATCCTGGCCAAGTTCCTGCACTGGCTGATG
AGTGTGTACGTCGTCGAGCTGCTCAGGTCTTTCTTTTATGTCACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGT
GTCTGGAGCAAGTTGCAAAGCATTGGAATCAGACAGCACTTGAAGAGGGTGCAGCTGCGGGAGCTGTCGGAAGCAGAGGTCAGGCAGCAT
CGGGAAGCCAGGCCCGCCCTGCTGACGTCCAGACTCCGCTTCATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTC
GTGGGAGCCAGAACGTTCCGCAGAGAAAAGAGGGCCGAGCGTCTCACCTCGAGGGTGAAGGCACTGTTCAGCGTGCTCAACTACGAGCGG
GCGCGGCGCCCCGGCCTCCTGGGCGCCTCTGTGCTGGGCCTGGACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCC
CAGGACCCGCCGCCTGAGCTGTACTTTGTCAAGGTGGATGTGACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCACGGAGGTCATC
GCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTC
AAGAGCCACGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCC
GTCGTCATCGAGCAGAGCTCCTCCCTGAATGAGGCCAGCAGTGGCCTCTTCGACGTCTTCCTACGCTTCATGTGCCACCACGCCGTGCGC
ATCAGGGGCAAGTCCTACGTCCAGTGCCAGGGGATCCCGCAGGGCTCCATCCTCTCCACGCTGCTCTGCAGCCTGTGCTACGGCGACATG
GAGAACAAGCTGTTTGCGGGGATTCGGCGGGACGGGCTGCTCCTGCGTTTGGTGGATGATTTCTTGTTGGTGACACCTCACCTCACCCAC
GCGAAAACCTTCCTCAGGACCCTGGTCCGAGGTGTCCCTGAGTATGGCTGCGTGGTGAACTTGCGGAAGACAGTGGTGAACTTCCCTGTA
GAAGACGAGGCCCTGGGTGGCACGGCTTTTGTTCAGATGCCGGCCCACGGCCTATTCCCCTGGTGCGGCCTGCTGCTGGATACCCGGACC
CTGGAGGTGCAGAGCGACTACTCCAGCTATGCCCGGACCTCCATCAGAGCCAGTCTCACCTTCAACCGCGGCTTCAAGGCTGGGAGGAAC
ATGCGTCGCAAACTCTTTGGGGTCTTGCGGCTGAAGTGTCACAGCCTGTTTCTGGATTTGCAGGTGAACAGCCTCCAGACGGTGTGCACC
AACATCTACAAGATCCTCCTGCTGCAGGCGTACAGGTTTCACGCATGTGTGCTGCAGCTCCCATTTCATCAGCAAGTTTGGAAGAACCCC
ACATTTTTCCTGCGCGTCATCTCTGACACGGCCTCCCTCTGCTACTCCATCCTGAAAGCCAAGAACGCAGGGATGTCGCTGGGGGCCAAG
GGCGCCGCCGGCCCTCTGCCCTCCGAGGCCGTGCAGTGGCTGTGCCACCAAGCATTCCTGCTCAAGCTGACTCGACACCGTGTCACCTAC
GTGCCACTCCTGGGGTCACTCAGGACAGCCCAGACGCAGCTGAGTCGGAAGCTCCCGGGGACGACGCTGACTGCCCTGGAGGCCGCAGCC
AACCCGGCACTGCCCTCAGACTTCAAGACCATCCTGGACTGATGGCCACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGT
CACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCC
GAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGAGGCCTGAGCGAGTGTCCAGCCAAGGGCTGAGTGTCCAGCACACCTGCCGT
CTTCACTTCCCCACAGGCTGGCGCTCGGCTCCACCCCAGGGCCAGCTTTTCCTCACCAGGAGCCCGGCTTCCACTCCCCACATAGGAATA
GTCCATCCCCAGATTCGCCATTGTTCACCCCTCGCCCTGCCCTCCTTTGCCTTCCACCCCCACCATCCAGGTGGAGACCCTGAGAAGGAC
CCTGGGAGCTCTGGGAATTTGGAGTGACCAAAGGTGTGCCCTGTACACAGGCGAGGACCCTGCACCTGGATGGGGGTCCCTGTGGGTCAA

>In-frame_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000334602_chr5_1282739_-_2463nt
GGGGCCGCGCCGGGTAGCGTTTCTTTTTAGTGCCTGAGGCAGCTCTGGCTCGGAGAGCCTTTTGCTAGCCCCACGGGGACCTCTGTGCAC
GGATGGACCCGCCCGGACCTGGCGGGAAGCGGCCTGGCAGGCGGCGGCCCCGGCGGCATCAGCAGAGACAGGACGGGGCCGACGCCGCGG
GCCCCTGAGGCGTGCGTGCCCACCGGGCCCGGCGGCGGCACCATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGAC
CTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTGAATGAATATGTTGAAGCATTAATTACCTTGAAACAAAAAATTATCAAT
ACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAGCTGCAGTTTGCAAGAAGAGAGAATAGTAATCTGCATCACCAAGTGGAA
GAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAAGAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCTTTA
AAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAGGAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAG
GTGAAGAAGCTGCAAGAGGCTGCTGTCAAGCAAACTCAGGACTTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAG
AAGACACAGGAAAGGCTTGACGAATTTTCTAAACAGAAAAATGAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATAT
GGAAGCATAGATAAAAGGGTTGGCTGTGTTCCGGCCGCAGAGCACCGTCTGCGTGAGGAGATCCTGGCCAAGTTCCTGCACTGGCTGATG
AGTGTGTACGTCGTCGAGCTGCTCAGGTCTTTCTTTTATGTCACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGT
GTCTGGAGCAAGTTGCAAAGCATTGGAATCAGACAGCACTTGAAGAGGGTGCAGCTGCGGGAGCTGTCGGAAGCAGAGGTCAGGCAGCAT
CGGGAAGCCAGGCCCGCCCTGCTGACGTCCAGACTCCGCTTCATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTC
GTGGGAGCCAGAACGTTCCGCAGAGAAAAGAGGGCCGAGCGTCTCACCTCGAGGGTGAAGGCACTGTTCAGCGTGCTCAACTACGAGCGG
GCGCGGCGCCCCGGCCTCCTGGGCGCCTCTGTGCTGGGCCTGGACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCC
CAGGACCCGCCGCCTGAGCTGTACTTTGTCAAGGTGGATGTGACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCACGGAGGTCATC
GCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTC
AAGAGCCACGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCC
GTCGTCATCGAGCAGAGCTCCTCCCTGAATGAGGCCAGCAGTGGCCTCTTCGACGTCTTCCTACGCTTCATGTGCCACCACGCCGTGCGC
ATCAGGGGCAAGTCCTACGTCCAGTGCCAGGGGATCCCGCAGGGCTCCATCCTCTCCACGCTGCTCTGCAGCCTGTGCTACGGCGACATG
GAGAACAAGCTGTTTGCGGGGATTCGGCGGGACGGGCTGCTCCTGCGTTTGGTGGATGATTTCTTGTTGGTGACACCTCACCTCACCCAC
GCGAAAACCTTCCTCAGCTATGCCCGGACCTCCATCAGAGCCAGTCTCACCTTCAACCGCGGCTTCAAGGCTGGGAGGAACATGCGTCGC
AAACTCTTTGGGGTCTTGCGGCTGAAGTGTCACAGCCTGTTTCTGGATTTGCAGGTGAACAGCCTCCAGACGGTGTGCACCAACATCTAC
AAGATCCTCCTGCTGCAGGCGTACAGGTTTCACGCATGTGTGCTGCAGCTCCCATTTCATCAGCAAGTTTGGAAGAACCCCACATTTTTC
CTGCGCGTCATCTCTGACACGGCCTCCCTCTGCTACTCCATCCTGAAAGCCAAGAACGCAGGGATGTCGCTGGGGGCCAAGGGCGCCGCC
GGCCCTCTGCCCTCCGAGGCCGTGCAGTGGCTGTGCCACCAAGCATTCCTGCTCAAGCTGACTCGACACCGTGTCACCTACGTGCCACTC
CTGGGGTCACTCAGGACAGCCCAGACGCAGCTGAGTCGGAAGCTCCCGGGGACGACGCTGACTGCCCTGGAGGCCGCAGCCAACCCGGCA

>In-frame_KIAA0947_ENST00000296564_chr5_5448010_+_TERT_ENST00000508104_chr5_1282739_-_1739nt
GGGGCCGCGCCGGGTAGCGTTTCTTTTTAGTGCCTGAGGCAGCTCTGGCTCGGAGAGCCTTTTGCTAGCCCCACGGGGACCTCTGTGCAC
GGATGGACCCGCCCGGACCTGGCGGGAAGCGGCCTGGCAGGCGGCGGCCCCGGCGGCATCAGCAGAGACAGGACGGGGCCGACGCCGCGG
GCCCCTGAGGCGTGCGTGCCCACCGGGCCCGGCGGCGGCACCATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGAC
CTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTGAATGAATATGTTGAAGCATTAATTACCTTGAAACAAAAAATTATCAAT
ACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAGCTGCAGTTTGCAAGAAGAGAGAATAGTAATCTGCATCACCAAGTGGAA
GAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAAGAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCTTTA
AAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAGGAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAG
GTGAAGAAGCTGCAAGAGGCTGCTGTCAAGCAAACTCAGGACTTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAG
AAGACACAGGAAAGGCTTGACGAATTTTCTAAACAGAAAAATGAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATAT
GGAAGCATAGATAAAAGGGTTGGCTGTGTTCCGGCCGCAGAGCACCGTCTGCGTGAGGAGATCCTGGCCAAGTTCCTGCACTGGCTGATG
AGTGTGTACGTCGTCGAGCTGCTCAGGTCTTTCTTTTATGTCACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGT
GTCTGGAGCAAGTTGCAAAGCATTGGAATCAGACAGCACTTGAAGAGGGTGCAGCTGCGGGAGCTGTCGGAAGCAGAGGTCAGGCAGCAT
CGGGAAGCCAGGCCCGCCCTGCTGACGTCCAGACTCCGCTTCATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTC
GTGGGAGCCAGAACGTTCCGCAGAGAAAAGAGGGCCGAGCGTCTCACCTCGAGGGTGAAGGCACTGTTCAGCGTGCTCAACTACGAGCGG
GCGCGGCGCCCCGGCCTCCTGGGCGCCTCTGTGCTGGGCCTGGACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCC
CAGGACCCGCCGCCTGAGCTGTACTTTGTCAAGGTGGATGTGACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCACGGAGGTCATC
GCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTC
AAGAGCCACGTCCTACGTCCAGTGCCAGGGGATCCCGCAGGGCTCCATCCTCTCCACGCTGCTCTGCAGCCTGTGCTACGGCGACATGGA
GAACAAGCTGTTTGCGGGGATTCGGCGGGACGGGCTGCTCCTGCGTTTGGTGGATGATTTCTTGTTGGTGACACCTCACCTCACCCACGC


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FusionGenePPI for KIAA0947_TERT


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
KIAA0947TERTNCL, MCRS1, SMG6, SMG5, HSP90AA1, XRCC5, XRCC6, TEP1, RELA, AKT1, MTOR, RPS6KB1, PINX1, YWHAZ, YWHAQ, MUS81, PML, MKRN1, NAT10, MDM2, GNL3L, TERF1, PTGES3, POT1, CIB1, STUB1, HSPA1A, DYRK2, UBR5, DDB1, VPRBP, RUVBL1, RUVBL2, TERC, DKC1, SLC7A11, UBE2D3, U2SURP, IREB2, TGFBR2, GLA, SERBP1, DYNLL1, PHF20L1, ATP5B, C19orf40, PFDN1, CCT5, EIF2S1, TIMM21, TUBA1B, PABPC1, ANXA2, DDX51, PBK, STEAP4, ACAA2, ENO1, PPIA, HSPA4, TPP1, TP53, ETV1, ATR, FOXO3, DAXX


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 KIAA0947_TERT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTERTO14746DB00495ZidovudineTelomerase reverse transcriptasesmall moleculeapproved

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RelatedDiseases for KIAA0947_TERT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTERTC3553617PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 19UNIPROT
TgeneTERTC3151443DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 26UNIPROT
TgeneTERTC0002874Aplastic Anemia4CTD_human;HPO;UNIPROT
TgeneTERTC1800706Idiopathic Pulmonary Fibrosis4CTD_human;ORPHANET
TgeneTERTC2239176Liver carcinoma4CTD_human
TgeneTERTC0265965Dyskeratosis Congenita3CTD_human;ORPHANET
TgeneTERTC0017638Glioma2CTD_human
TgeneTERTC0024121Lung Neoplasms2CTD_human
TgeneTERTC0030297Pancreatic Neoplasm2CTD_human
TgeneTERTC0033578Prostatic Neoplasms2CTD_human
TgeneTERTC0005695Bladder Neoplasm1CTD_human
TgeneTERTC0007117Basal cell carcinoma1CTD_human
TgeneTERTC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneTERTC0007873Uterine Cervical Neoplasm1CTD_human
TgeneTERTC0010314Cri-du-Chat Syndrome1CTD_human
TgeneTERTC0022658Kidney Diseases1CTD_human
TgeneTERTC0023448Lymphoid leukemia1CTD_human
TgeneTERTC0023473Myeloid Leukemia, Chronic1CTD_human
TgeneTERTC0023903Liver neoplasms1CTD_human
TgeneTERTC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneTERTC0025202melanoma1CTD_human;HPO
TgeneTERTC0027819Neuroblastoma1CTD_human
TgeneTERTC0035126Reperfusion Injury1CTD_human
TgeneTERTC0040136Thyroid Neoplasm1CTD_human
TgeneTERTC0041696Unipolar Depression1PSYGENET
TgeneTERTC0206686Adrenocortical carcinoma1CTD_human
TgeneTERTC0919267ovarian neoplasm1CTD_human
TgeneTERTC1269683Major Depressive Disorder1PSYGENET
TgeneTERTC1458155Mammary Neoplasms1CTD_human
TgeneTERTC1846142HOYERAAL-HREIDARSSON SYNDROME1CTD_human;ORPHANET
TgeneTERTC1956346Coronary Artery Disease1CTD_human