UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:SPECC1L-RET

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SPECC1L-RET
FusionPDB ID: 85687
FusionGDB2.0 ID: 85687
HgeneTgene
Gene symbol

SPECC1L

RET

Gene ID

23384

5979

Gene namesperm antigen with calponin homology and coiled-coil domains 1 likeret proto-oncogene
SynonymsCYTSA|GBBB2|OBLFC1|TBHSCDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1
Cytomap

22q11.23

10q11.21

Type of geneprotein-codingprotein-coding
Descriptioncytospin-ASPECC1-like proteincytokinesis and spindle organization Arenal carcinoma antigen NY-REN-22proto-oncogene tyrosine-protein kinase receptor RetRET receptor tyrosine kinasecadherin family member 12cadherin-related family member 16proto-oncogene c-Retrearranged during transfectionret proto-oncogene (multiple endocrine neoplasia and medullary
Modification date2020031320200322
UniProtAcc.

RTL1

Ensembl transtripts involved in fusion geneENST idsENST00000314328, ENST00000437398, 
ENST00000541492, ENST00000416735, 
ENST00000340058, ENST00000355710, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score24 X 9 X 16=345632 X 31 X 11=10912
# samples 3748
** MAII scorelog2(37/3456*10)=-3.22350604164716
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(48/10912*10)=-4.50673733341565
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SPECC1L [Title/Abstract] AND RET [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SPECC1L(24734445)-RET(43612032), # samples:3
Anticipated loss of major functional domain due to fusion event.SPECC1L-RET seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SPECC1L-RET seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SPECC1L-RET seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SPECC1L-RET seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneSPECC1L

GO:0007155

cell adhesion

21703590

TgeneRET

GO:0030155

regulation of cell adhesion

21357690

TgeneRET

GO:0030335

positive regulation of cell migration

20702524

TgeneRET

GO:0033619

membrane protein proteolysis

21357690

TgeneRET

GO:0033630

positive regulation of cell adhesion mediated by integrin

20702524

TgeneRET

GO:0035860

glial cell-derived neurotrophic factor receptor signaling pathway

28953886

TgeneRET

GO:0043410

positive regulation of MAPK cascade

28846099


check buttonFusion gene breakpoints across SPECC1L (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across RET (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4THCATCGA-CE-A485-01ASPECC1Lchr22

24734445

-RETchr10

43612032

+
ChimerDB4THCATCGA-CE-A485-01ASPECC1Lchr22

24734445

+RETchr10

43612032

+


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000437398SPECC1Lchr2224734445+ENST00000355710RETchr1043612032+614628559540631322
ENST00000437398SPECC1Lchr2224734445+ENST00000340058RETchr1043612032+468828559539371280
ENST00000314328SPECC1Lchr2224734445+ENST00000355710RETchr1043612032+6228293728541451286
ENST00000314328SPECC1Lchr2224734445+ENST00000340058RETchr1043612032+4770293728540191244
ENST00000541492SPECC1Lchr2224734445+ENST00000355710RETchr1043612032+608127903039981322
ENST00000541492SPECC1Lchr2224734445+ENST00000340058RETchr1043612032+462327903038721280

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000437398ENST00000355710SPECC1Lchr2224734445+RETchr1043612032+0.0013590920.99864095
ENST00000437398ENST00000340058SPECC1Lchr2224734445+RETchr1043612032+0.0040130680.9959869
ENST00000314328ENST00000355710SPECC1Lchr2224734445+RETchr1043612032+0.0014882680.99851173
ENST00000314328ENST00000340058SPECC1Lchr2224734445+RETchr1043612032+0.004237640.9957624
ENST00000541492ENST00000355710SPECC1Lchr2224734445+RETchr1043612032+0.0012436460.9987564
ENST00000541492ENST00000340058SPECC1Lchr2224734445+RETchr1043612032+0.0037501780.99624985

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>85687_85687_1_SPECC1L-RET_SPECC1L_chr22_24734445_ENST00000314328_RET_chr10_43612032_ENST00000340058_length(amino acids)=1244AA_BP=884
MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPA
MTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAA
LEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDR
LNALGFSLEQRLDNSEKLFGYQSLSPEITPDNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSD
DALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLC
QQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKER
SHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDL
AHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKK
LQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNY
MNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQEDPKWEFPRKNLVLGK
TLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQVNHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRE
SRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQYLAEMKLVHRDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKR
SQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFNLLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVF

--------------------------------------------------------------

>85687_85687_2_SPECC1L-RET_SPECC1L_chr22_24734445_ENST00000314328_RET_chr10_43612032_ENST00000355710_length(amino acids)=1286AA_BP=884
MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPA
MTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAA
LEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDR
LNALGFSLEQRLDNSEKLFGYQSLSPEITPDNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSD
DALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLC
QQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKER
SHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDL
AHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKK
LQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNY
MNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQEDPKWEFPRKNLVLGK
TLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQVNHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRE
SRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQYLAEMKLVHRDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKR
SQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFNLLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVF
ADISKDLEKMMVKRRDYLDLAASTPSDSLIYDDGLSEEETPLVDCNNAPLPRALPSTWIENKLYGMSDPNWPGESPVPLTRADGTNTGFP

--------------------------------------------------------------

>85687_85687_3_SPECC1L-RET_SPECC1L_chr22_24734445_ENST00000437398_RET_chr10_43612032_ENST00000340058_length(amino acids)=1280AA_BP=920
MSHRVSSPPSPNQEIARERCGAARFACKCITKRQPRMKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKS
SDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQG
ANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAH
QPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPDNQSDGGGTLTSSVEGSAPGSVED
LLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEEL
QATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARF
EREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELY
SIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERS
DMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDL
KRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPR
TPLSPSPMKTPPAAAVSPMQEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQV
NHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQYLAEMKLVH
RDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFN
LLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLIYDDGLSEEETPLVDCNNAPLPRAL

--------------------------------------------------------------

>85687_85687_4_SPECC1L-RET_SPECC1L_chr22_24734445_ENST00000437398_RET_chr10_43612032_ENST00000355710_length(amino acids)=1322AA_BP=920
MSHRVSSPPSPNQEIARERCGAARFACKCITKRQPRMKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKS
SDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQG
ANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAH
QPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPDNQSDGGGTLTSSVEGSAPGSVED
LLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEEL
QATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARF
EREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELY
SIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERS
DMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDL
KRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPR
TPLSPSPMKTPPAAAVSPMQEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQV
NHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQYLAEMKLVH
RDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFN
LLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLIYDDGLSEEETPLVDCNNAPLPRAL

--------------------------------------------------------------

>85687_85687_5_SPECC1L-RET_SPECC1L_chr22_24734445_ENST00000541492_RET_chr10_43612032_ENST00000340058_length(amino acids)=1280AA_BP=920
MSHRVSSPPSPNQEIARERCGAARFACKCITKRQPRMKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKS
SDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQG
ANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAH
QPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPDNQSDGGGTLTSSVEGSAPGSVED
LLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEEL
QATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARF
EREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELY
SIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERS
DMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDL
KRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPR
TPLSPSPMKTPPAAAVSPMQEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQV
NHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQYLAEMKLVH
RDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFN
LLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLIYDDGLSEEETPLVDCNNAPLPRAL

--------------------------------------------------------------

>85687_85687_6_SPECC1L-RET_SPECC1L_chr22_24734445_ENST00000541492_RET_chr10_43612032_ENST00000355710_length(amino acids)=1322AA_BP=920
MSHRVSSPPSPNQEIARERCGAARFACKCITKRQPRMKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKS
SDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQG
ANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAH
QPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPDNQSDGGGTLTSSVEGSAPGSVED
LLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEEL
QATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARF
EREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELY
SIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERS
DMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDL
KRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPR
TPLSPSPMKTPPAAAVSPMQEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQV
NHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQYLAEMKLVH
RDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFN
LLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLIYDDGLSEEETPLVDCNNAPLPRAL

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:24734445/chr10:43612032)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

RTL1

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.1358

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000314328+1017168_280884.01118.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000314328+1017394_449884.01118.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000314328+1017487_807884.01118.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000437398+916168_280884.01118.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000437398+916394_449884.01118.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000437398+916487_807884.01118.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000541492+915168_280884.01079.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000541492+915394_449884.01079.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000541492+915487_807884.01079.0Coiled coilOntology_term=ECO:0000255
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000314328+1017858_861884.01118.0Compositional biasNote=Poly-Ala
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000437398+916858_861884.01118.0Compositional biasNote=Poly-Ala
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000541492+915858_861884.01079.0Compositional biasNote=Poly-Ala
TgeneRETchr22:24734445chr10:43612032ENST000003400581019724_1016712.01073.0DomainProtein kinase
TgeneRETchr22:24734445chr10:43612032ENST000003557101020724_1016712.01115.0DomainProtein kinase
TgeneRETchr22:24734445chr10:43612032ENST000003400581019730_738712.01073.0Nucleotide bindingATP
TgeneRETchr22:24734445chr10:43612032ENST000003557101020730_738712.01115.0Nucleotide bindingATP
TgeneRETchr22:24734445chr10:43612032ENST000003400581019805_807712.01073.0RegionNote=Inhibitors binding
TgeneRETchr22:24734445chr10:43612032ENST000003557101020805_807712.01115.0RegionNote=Inhibitors binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000314328+10171011_1116884.01118.0DomainCalponin-homology (CH)
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000437398+9161011_1116884.01118.0DomainCalponin-homology (CH)
HgeneSPECC1Lchr22:24734445chr10:43612032ENST00000541492+9151011_1116884.01079.0DomainCalponin-homology (CH)
TgeneRETchr22:24734445chr10:43612032ENST000003400581019168_272712.01073.0DomainCadherin
TgeneRETchr22:24734445chr10:43612032ENST000003557101020168_272712.01115.0DomainCadherin
TgeneRETchr22:24734445chr10:43612032ENST00000340058101929_635712.01073.0Topological domainExtracellular
TgeneRETchr22:24734445chr10:43612032ENST000003400581019658_1114712.01073.0Topological domainCytoplasmic
TgeneRETchr22:24734445chr10:43612032ENST00000355710102029_635712.01115.0Topological domainExtracellular
TgeneRETchr22:24734445chr10:43612032ENST000003557101020658_1114712.01115.0Topological domainCytoplasmic
TgeneRETchr22:24734445chr10:43612032ENST000003400581019636_657712.01073.0TransmembraneHelical
TgeneRETchr22:24734445chr10:43612032ENST000003557101020636_657712.01115.0TransmembraneHelical


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
RETSTAT3, DOK6, DOK5, SRC, SHC1, PTPRF, DOK2, DOK4, DOK1, GRB2, CRK, PLCG1, PDLIM7, GRB7, FRS2, NRTN, GFRA1, GRB10, IKBKG, MCRS1, CBL, CBLC, RET, HSP90AA1, NOTCH2NL, NOTCH3, AIP, EGFR, NTRK1, ZBTB48, HNRNPD, SORT1, SYNCRIP, SGTB, BAG6, HIST1H3A, KYNU, TXNL4A, ZCCHC8, ICE2, MAPK3, PTK2, MAPK1, PTPRR, DUSP26, Shc1, PIK3R1, FBXO7, NEDD4, SHANK2, LRRK1, PTK6, CTNNB1, SHC4, ERBB2, ADAM10, SPINT2, PCDH7, LRIG2, APP, GDNF, IGF1R, CLU, EPCAM, CDH2, TGFBR1, PTK7, FAT1, DHCR24, SMN1, PCDH19, NCSTN, CERS2, CHP1, FANCD2, ITM2C, SEL1L, PCDHGB5, CKB, NRP1, PLXNB2, NCK2, CTNND1, TULP3, PTPN1, NF2, CRKL, CAMLG, NUMB, BASP1, ROR2, NOTCH2, PTPN13, ANK3, RAB3GAP1, PEA15, LLGL1, GPRIN3, RAPH1, MARK2, CYFIP1, ARC, GPRIN1, ANKLE2, VRK2, MIB1, PHACTR4, UNC5B, TMEM57, SYAP1, FAF2, ERBB2IP, FAM129B, KIAA1715, PEAK1, VANGL2, BAIAP2, EPN1, NUMBL, PRKAR2A, GAB1, PTPRA, DDX39A, TIMP1, EPHB4, MANEA, SRY, RABAC1, LEMD3, TMEM214, PDZD8, GPR50, SMIM5, RNF149, SDF2L1, BMPR1A, PLEKHH3, ACVR2A,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SPECC1L
RETall structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to SPECC1L-RET


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to SPECC1L-RET


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRETC1833921Familial medullary thyroid carcinoma23CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRETC3888239HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 116GENOMICS_ENGLAND;UNIPROT
TgeneRETC0025268Multiple Endocrine Neoplasia Type 2a15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRETC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome12CLINGEN
TgeneRETC0025269Multiple Endocrine Neoplasia Type 2b10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRETC0238463Papillary thyroid carcinoma3CTD_human;ORPHANET
TgeneRETC1275808Congenital central hypoventilation3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneRETC1859049CCHS WITH HIRSCHSPRUNG DISEASE3CTD_human;ORPHANET
TgeneRETC0009402Colorectal Carcinoma2CTD_human;UNIPROT
TgeneRETC0009404Colorectal Neoplasms2CTD_human
TgeneRETC0019569Hirschsprung Disease2CTD_human
TgeneRETC0027662Multiple Endocrine Neoplasia2CTD_human;GENOMICS_ENGLAND
TgeneRETC0085758Aganglionosis, Colonic2CTD_human
TgeneRETC0266294Unilateral agenesis of kidney2ORPHANET
TgeneRETC1257840Aganglionosis, Rectosigmoid Colon2CTD_human
TgeneRETC3661523Congenital Intestinal Aganglionosis2CTD_human
TgeneRETC0006413Burkitt Lymphoma1CTD_human
TgeneRETC0031511Pheochromocytoma1CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneRETC0038220Status Epilepticus1CTD_human
TgeneRETC0040136Thyroid Neoplasm1CGI;CTD_human
TgeneRETC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneRETC0206693Medullary carcinoma1CTD_human
TgeneRETC0238462Medullary carcinoma of thyroid1CGI;CTD_human
TgeneRETC0270823Petit mal status1CTD_human
TgeneRETC0311335Grand Mal Status Epilepticus1CTD_human
TgeneRETC0343640African Burkitt's lymphoma1CTD_human
TgeneRETC0393734Complex Partial Status Epilepticus1CTD_human
TgeneRETC0549473Thyroid carcinoma1CGI;CTD_human;UNIPROT
TgeneRETC0740340Amyloidosis, Familial1CTD_human
TgeneRETC0751522Status Epilepticus, Subclinical1CTD_human
TgeneRETC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneRETC0751524Simple Partial Status Epilepticus1CTD_human
TgeneRETC1257877Pheochromocytoma, Extra-Adrenal1CTD_human
TgeneRETC1609433Congenital absence of kidneys syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneRETC3501843Nonmedullary Thyroid Carcinoma1CTD_human
TgeneRETC3501844Familial Nonmedullary Thyroid Cancer1CTD_human
TgeneRETC4721444Burkitt Leukemia1CTD_human