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level2

	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:SAMD12-TG

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SAMD12-TG
	FusionPDB ID: 79063
	FusionGDB2.0 ID: 79063
		Hgene	Tgene
	Gene symbol	SAMD12	TG
	Gene ID	401474	7038
	Gene name	sterile alpha motif domain containing 12	thyroglobulin
	Synonyms	-	AITD3\|TGN
	Cytomap	8q24.11-q24.12	8q24.22
	Type of gene	protein-coding	protein-coding
	Description	sterile alpha motif domain-containing protein 12SAM domain-containing protein 12	thyroglobulin
	Modification date	20200313	20200313
	UniProtAcc	.	TIAF1
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000314727, ENST00000409003, ENST00000527515,	ENST00000519543, ENST00000522523, ENST00000542445, ENST00000220616, ENST00000377869,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	17 X 11 X 6=1122	27 X 26 X 8=5616
	# samples	22	29
	** MAII score	log2(22/1122*10)=-2.35049724708413 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(29/5616*10)=-4.27541813028963 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SAMD12 [Title/Abstract] AND TG [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SAMD12(119592954)-TG(133923622), # samples:2
Anticipated loss of major functional domain due to fusion event.	SAMD12-TG 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. SAMD12-TG 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. SAMD12-TG 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. SAMD12-TG 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. SAMD12-TG seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Fusion gene breakpoints across SAMD12 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	LUSC	TCGA-21-5783-01A	SAMD12	chr8	119592954	-	TG	chr8	133923622	+
ChimerDB4	LUSC	TCGA-21-5783	SAMD12	chr8	119592954	-	TG	chr8	133923622	+
ChimerDB4	LUSC	TCGA-21-5783	SAMD12	chr8	119592954	-	TG	chr8	133925292	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000409003	SAMD12	chr8	119592954	-	ENST00000377869	TG	chr8	133923622	+	4560	321	129	4454	1441
ENST00000409003	SAMD12	chr8	119592954	-	ENST00000220616	TG	chr8	133923622	+	4729	321	129	4625	1498
ENST00000314727	SAMD12	chr8	119592954	-	ENST00000377869	TG	chr8	133923622	+	4568	329	137	4462	1441
ENST00000314727	SAMD12	chr8	119592954	-	ENST00000220616	TG	chr8	133923622	+	4737	329	137	4633	1498

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000409003	ENST00000377869	SAMD12	chr8	119592954	-	TG	chr8	133923622	+	0.001716908	0.99828315
ENST00000409003	ENST00000220616	SAMD12	chr8	119592954	-	TG	chr8	133923622	+	0.001692161	0.9983078
ENST00000314727	ENST00000377869	SAMD12	chr8	119592954	-	TG	chr8	133923622	+	0.001717199	0.9982828
ENST00000314727	ENST00000220616	SAMD12	chr8	119592954	-	TG	chr8	133923622	+	0.001690784	0.99830925

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Fusion Amino Acid Sequences

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

>79063_79063_1_SAMD12-TG_SAMD12_chr8_119592954_ENST00000314727_TG_chr8_133923622_ENST00000220616_length(amino acids)=1498AA_BP=64
MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEAETAKVKTFGTLVSIPVCNNSSVQVGCLTRE
RLGVNVTWKSRLEDIPVASLPDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGCSEGFYQVLTS
EASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTISAGAFSQTHCVTDCQRNEAGLQCDQNGQYRASQKDRGSGK
AFCVDGEGRRLPWWETEAPLEDSQCLMMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVSTTEPEISCDFY
AWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGQGSTTTLQKRFEPTGFQNMLSGLYNPIVFSASGANLTDA
HLFCLLACDRDLCCDGFVLTQVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIKSLTPLEGTQD
TFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQE
HSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRNKVPMSEKSIS
NGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVV
LPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQGQ
NCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKP
RASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEV
SGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEV
SCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRAKAVKQFEESR
GRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHG
SLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGL

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

>79063_79063_2_SAMD12-TG_SAMD12_chr8_119592954_ENST00000314727_TG_chr8_133923622_ENST00000377869_length(amino acids)=1441AA_BP=64
MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEAETAKVKTFGTLVSIPVCNNSSVQVGCLTRE
RLGVNVTWKSRLEDIPVASLPDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGCSEGFYQVLTS
EASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTISAGAFSQTHLMQKFEKVPESKVIFDANAPVAVRSKVPDSE
FPVMQCLTDCTEDEACSFFTVSTTEPEISCDFYAWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGQGSTTT
LQKRFEPTGFQNMLSGLYNPIVFSASGANLTDAHLFCLLACDRDLCCDGFVLTQVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATC
PGVTYDQESHQVILRLGDQEFIKSLTPLEGTQDTFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVN
GNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVIL
EDKVKNFYTRLPFQKLMGISIRNKVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILD
CGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQH
EACLITTLQTQPGAVRCMFYADTQSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQ
FLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAI
DGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLF
RRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALK
RSLWVEVDLLIGSSQDDGLINRAKAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDY
FIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRK
VPTFATPWPDFVPRAGGENYKEFSELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQEPGSKTYS

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

>79063_79063_3_SAMD12-TG_SAMD12_chr8_119592954_ENST00000409003_TG_chr8_133923622_ENST00000220616_length(amino acids)=1498AA_BP=64
MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEAETAKVKTFGTLVSIPVCNNSSVQVGCLTRE
RLGVNVTWKSRLEDIPVASLPDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGCSEGFYQVLTS
EASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTISAGAFSQTHCVTDCQRNEAGLQCDQNGQYRASQKDRGSGK
AFCVDGEGRRLPWWETEAPLEDSQCLMMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVSTTEPEISCDFY
AWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGQGSTTTLQKRFEPTGFQNMLSGLYNPIVFSASGANLTDA
HLFCLLACDRDLCCDGFVLTQVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIKSLTPLEGTQD
TFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQE
HSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRNKVPMSEKSIS
NGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVV
LPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQGQ
NCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKP
RASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEV
SGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEV
SCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRAKAVKQFEESR
GRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHG
SLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGL

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

>79063_79063_4_SAMD12-TG_SAMD12_chr8_119592954_ENST00000409003_TG_chr8_133923622_ENST00000377869_length(amino acids)=1441AA_BP=64
MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEAETAKVKTFGTLVSIPVCNNSSVQVGCLTRE
RLGVNVTWKSRLEDIPVASLPDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGCSEGFYQVLTS
EASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTISAGAFSQTHLMQKFEKVPESKVIFDANAPVAVRSKVPDSE
FPVMQCLTDCTEDEACSFFTVSTTEPEISCDFYAWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGQGSTTT
LQKRFEPTGFQNMLSGLYNPIVFSASGANLTDAHLFCLLACDRDLCCDGFVLTQVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATC
PGVTYDQESHQVILRLGDQEFIKSLTPLEGTQDTFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVN
GNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVIL
EDKVKNFYTRLPFQKLMGISIRNKVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILD
CGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQH
EACLITTLQTQPGAVRCMFYADTQSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQ
FLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAI
DGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLF
RRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALK
RSLWVEVDLLIGSSQDDGLINRAKAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDY
FIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRK
VPTFATPWPDFVPRAGGENYKEFSELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQEPGSKTYS

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:119592954/chr8:133923622)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	TG TIAF1
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.	115

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1511_1565

1334.0

2769.0

Domain

Thyroglobulin type-1 11

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1511_1565

1334.0

2712.0

Domain

Thyroglobulin type-1 11

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

2188_2768

1334.0

2769.0

Region

Cholinesterase-like (ChEL)

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

2188_2768

1334.0

2712.0

Region

Cholinesterase-like (ChEL)

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1456_1469

1334.0

2769.0

Repeat

Type II

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1470_1486

1334.0

2769.0

Repeat

Type II

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1487_1503

1334.0

2769.0

Repeat

Type II

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1603_1723

1334.0

2769.0

Repeat

Type IIIA

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1724_1892

1334.0

2769.0

Repeat

Type IIIB

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1893_1995

1334.0

2769.0

Repeat

Type IIIA

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1996_2129

1334.0

2769.0

Repeat

Type IIIB

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

2130_2187

1334.0

2769.0

Repeat

Type IIIA

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1456_1469

1334.0

2712.0

Repeat

Type II

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1470_1486

1334.0

2712.0

Repeat

Type II

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1487_1503

1334.0

2712.0

Repeat

Type II

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1603_1723

1334.0

2712.0

Repeat

Type IIIA

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1724_1892

1334.0

2712.0

Repeat

Type IIIB

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1893_1995

1334.0

2712.0

Repeat

Type IIIA

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1996_2129

1334.0

2712.0

Repeat

Type IIIB

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

2130_2187

1334.0

2712.0

Repeat

Type IIIA

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

SAMD12

chr8:119592954

chr8:133923622

ENST00000314727

77_143

64.0

202.0

Domain

SAM

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1074_1145

1334.0

2769.0

Domain

Thyroglobulin type-1 9

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

1146_1210

1334.0

2769.0

Domain

Thyroglobulin type-1 10

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

161_297

1334.0

2769.0

Domain

Thyroglobulin type-1 3

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

298_358

1334.0

2769.0

Domain

Thyroglobulin type-1 4

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

31_92

1334.0

2769.0

Domain

Thyroglobulin type-1 1

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

605_658

1334.0

2769.0

Domain

Thyroglobulin type-1 5

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

659_726

1334.0

2769.0

Domain

Thyroglobulin type-1 6

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

727_921

1334.0

2769.0

Domain

Thyroglobulin type-1 7

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

922_1073

1334.0

2769.0

Domain

Thyroglobulin type-1 8

Tgene

chr8:119592954

chr8:133923622

ENST00000220616

93_160

1334.0

2769.0

Domain

Thyroglobulin type-1 2

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1074_1145

1334.0

2712.0

Domain

Thyroglobulin type-1 9

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

1146_1210

1334.0

2712.0

Domain

Thyroglobulin type-1 10

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

161_297

1334.0

2712.0

Domain

Thyroglobulin type-1 3

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

298_358

1334.0

2712.0

Domain

Thyroglobulin type-1 4

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

31_92

1334.0

2712.0

Domain

Thyroglobulin type-1 1

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

605_658

1334.0

2712.0

Domain

Thyroglobulin type-1 5

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

659_726

1334.0

2712.0

Domain

Thyroglobulin type-1 6

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

727_921

1334.0

2712.0

Domain

Thyroglobulin type-1 7

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

922_1073

1334.0

2712.0

Domain

Thyroglobulin type-1 8

Tgene

chr8:119592954

chr8:133923622

ENST00000377869

93_160

1334.0

2712.0

Domain

Thyroglobulin type-1 2

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>2071_SAMD12_119592954_TG_133923622_ranked_0.pdb	SAMD12	119592954	119592954	ENST00000220616	TG	chr8	133923622	+	MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEAETAKVKTFGTLVSIPVCNNSSVQVGCLTRE RLGVNVTWKSRLEDIPVASLPDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGCSEGFYQVLTS EASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTISAGAFSQTHCVTDCQRNEAGLQCDQNGQYRASQKDRGSGK AFCVDGEGRRLPWWETEAPLEDSQCLMMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVSTTEPEISCDFY AWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKKGQGSTTTLQKRFEPTGFQNMLSGLYNPIVFSASGANLTDA HLFCLLACDRDLCCDGFVLTQVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIKSLTPLEGTQD TFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVDLNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQE HSFCQLAEITESASLYFTCTLYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRNKVPMSEKSIS NGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENGGAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVV LPSLTEKVSLDSWQSLALSSVVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQGQ NCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGTSWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKP RASCWQPGTRTSTSPGVSEDCLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVFGFLSSGSGEV SGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTARATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEV SCPMSSSQEVVSCLRQKPANVLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRAKAVKQFEESR GRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRALENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHG SLELLADVQFALGLPFYPAYEGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEFSELLPNRQGL	1498

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

SAMD12_pLDDT.png

TG_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
SAMD12
TG

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to SAMD12-TG

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to SAMD12-TG

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

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source