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	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:PPP1R21-TTC7B

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: PPP1R21-TTC7B
	FusionPDB ID: 67885
	FusionGDB2.0 ID: 67885
		Hgene	Tgene
	Gene symbol	PPP1R21	TTC7B
	Gene ID	129285	145567
	Gene name	protein phosphatase 1 regulatory subunit 21	tetratricopeptide repeat domain 7B
	Synonyms	CCDC128\|KLRAQ1	TTC7L1\|c14_5685
	Cytomap	2p16.3	14q32.11
	Type of gene	protein-coding	protein-coding
	Description	protein phosphatase 1 regulatory subunit 21KLRAQ motif containing 1KLRAQ motif-containing protein 1coiled-coil domain containing 128coiled-coil domain-containing protein 128	tetratricopeptide repeat protein 7BTPR repeat protein 7-like-1TPR repeat protein 7Btetratricopeptide repeat domain 7 like 1tetratricopeptide repeat protein 7-like-1
	Modification date	20200313	20200313
	UniProtAcc	Q6ZMI0	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000476199, ENST00000281394, ENST00000294952, ENST00000449090,	ENST00000328459, ENST00000357056, ENST00000554654,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	12 X 11 X 5=660	11 X 11 X 5=605
	# samples	13	12
	** MAII score	log2(13/660*10)=-2.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(12/605*10)=-2.33390073655344 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: PPP1R21 [Title/Abstract] AND TTC7B [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	PPP1R21(48737252)-TTC7B(91124731), # samples:2 TTC7B(91142867)-PPP1R21(48734408), # samples:1
Anticipated loss of major functional domain due to fusion event.	PPP1R21-TTC7B 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. PPP1R21-TTC7B 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)

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
Tgene	TTC7B	GO:0046854	phosphatidylinositol phosphorylation	23229899\|26571211
Tgene	TTC7B	GO:0072659	protein localization to plasma membrane	23229899\|26571211

Fusion gene breakpoints across PPP1R21 (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 TTC7B (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	OV	TCGA-13-0905-01B	PPP1R21	chr2	48737252	+	TTC7B	chr14	91124731	-
ChimerDB4	OV	TCGA-13-0905	PPP1R21	chr2	48737252	+	TTC7B	chr14	91124731	-

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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)
ENST00000281394	PPP1R21	chr2	48737252	+	ENST00000357056	TTC7B	chr14	91124731	-	4546	2336	164	3766	1200
ENST00000281394	PPP1R21	chr2	48737252	+	ENST00000328459	TTC7B	chr14	91124731	-	4495	2336	164	3715	1183
ENST00000294952	PPP1R21	chr2	48737252	+	ENST00000357056	TTC7B	chr14	91124731	-	4551	2341	136	3771	1211
ENST00000294952	PPP1R21	chr2	48737252	+	ENST00000328459	TTC7B	chr14	91124731	-	4500	2341	136	3720	1194
ENST00000449090	PPP1R21	chr2	48737252	+	ENST00000357056	TTC7B	chr14	91124731	-	4365	2155	76	3585	1169
ENST00000449090	PPP1R21	chr2	48737252	+	ENST00000328459	TTC7B	chr14	91124731	-	4314	2155	76	3534	1152

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
ENST00000281394	ENST00000357056	PPP1R21	chr2	48737252	+	TTC7B	chr14	91124731	-	0.004609559	0.9953904
ENST00000281394	ENST00000328459	PPP1R21	chr2	48737252	+	TTC7B	chr14	91124731	-	0.004075062	0.99592495
ENST00000294952	ENST00000357056	PPP1R21	chr2	48737252	+	TTC7B	chr14	91124731	-	0.005073409	0.9949266
ENST00000294952	ENST00000328459	PPP1R21	chr2	48737252	+	TTC7B	chr14	91124731	-	0.002658568	0.99734145
ENST00000449090	ENST00000357056	PPP1R21	chr2	48737252	+	TTC7B	chr14	91124731	-	0.002576139	0.9974239
ENST00000449090	ENST00000328459	PPP1R21	chr2	48737252	+	TTC7B	chr14	91124731	-	0.002301325	0.9976987

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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

>67885_67885_1_PPP1R21-TTC7B_PPP1R21_chr2_48737252_ENST00000281394_TTC7B_chr14_91124731_ENST00000328459_length(amino acids)=1183AA_BP=723
MYGAGEAMASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALS
EPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQ
NDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFV
QDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFL
RKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISK
HYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRK
PLLESVPYEEALANRRILLSSTESREGLAQQVQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVS
NTAGQDEATAKAVLEPIQSTSLVPDVESREDLIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEALTEEMKLASQNI
SRLQCLERAMKFAFEEFHLWYQFALSLMAAGKSARAVKVLKECIRLKPDDATIPLLAAKLCMGSLHWLEEAEKFAKTVVDVGEKTSEFKA
KGYLALGLTYSLQATDASLRGMQEVLQRKALLAFQRAHSLSPTDHQAAFYLALQLAISRQIPEALGYVRQALQLQGDDANSLHLLALLLS
AQKHYHDALNIIDMALSEYPENFILLFSKVKLQSLCRGPDEALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRTIADRRQLNTITLPDF
SDPETGSVHATSVAASRVEQALSEVASSLQSSAPKQGPLHPWMTLAQIWLHAAEVYIGIGKPAEATACTQEAANLFPMSHNVLYMRGQIA
ELRGSMDEARRWYEEALAISPTHVKSMQRLALILHQLGRYSLAEKILRDAVQVNSTAHEVWNGLGEVLQAQGNDAAATECFLTALELEAS

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

>67885_67885_2_PPP1R21-TTC7B_PPP1R21_chr2_48737252_ENST00000281394_TTC7B_chr14_91124731_ENST00000357056_length(amino acids)=1200AA_BP=723
MYGAGEAMASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALS
EPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQ
NDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFV
QDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFL
RKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISK
HYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRK
PLLESVPYEEALANRRILLSSTESREGLAQQVQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVS
NTAGQDEATAKAVLEPIQSTSLVPDVESREDLIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEALTEEMKLASQNI
SRLQCLERAMKFAFEEFHLWYQFALSLMAAGKSARAVKVLKECIRLKPDDATIPLLAAKLCMGSLHWLEEAEKFAKTVVDVGEKTSEFKA
KGYLALGLTYSLQATDASLRGMQEVLQRKALLAFQRAHSLSPTDHQAAFYLALQLAISRQIPEALGYVRQALQLQGDDANSLHLLALLLS
AQKHYHDALNIIDMALSEYPENFILLFSKVKLQSLCRGPDEALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRTIADRRQLNTITLPDF
SDPETGNSPEAYFHGFPSLFSVSSVHATSVAASRVEQALSEVASSLQSSAPKQGPLHPWMTLAQIWLHAAEVYIGIGKPAEATACTQEAA
NLFPMSHNVLYMRGQIAELRGSMDEARRWYEEALAISPTHVKSMQRLALILHQLGRYSLAEKILRDAVQVNSTAHEVWNGLGEVLQAQGN

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

>67885_67885_3_PPP1R21-TTC7B_PPP1R21_chr2_48737252_ENST00000294952_TTC7B_chr14_91124731_ENST00000328459_length(amino acids)=1194AA_BP=734
MYGAGEAMASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALS
EPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQ
NDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFV
QDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFL
RKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISK
HYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRK
PLLESVPYEEALANRRILLSSTESREGLAQQVQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVS
NTAGQDEATAKAVLEPIQSTSLIGTLTRTSDSEVPDVESREDLIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEAL
TEEMKLASQNISRLQCLERAMKFAFEEFHLWYQFALSLMAAGKSARAVKVLKECIRLKPDDATIPLLAAKLCMGSLHWLEEAEKFAKTVV
DVGEKTSEFKAKGYLALGLTYSLQATDASLRGMQEVLQRKALLAFQRAHSLSPTDHQAAFYLALQLAISRQIPEALGYVRQALQLQGDDA
NSLHLLALLLSAQKHYHDALNIIDMALSEYPENFILLFSKVKLQSLCRGPDEALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRTIADR
RQLNTITLPDFSDPETGSVHATSVAASRVEQALSEVASSLQSSAPKQGPLHPWMTLAQIWLHAAEVYIGIGKPAEATACTQEAANLFPMS
HNVLYMRGQIAELRGSMDEARRWYEEALAISPTHVKSMQRLALILHQLGRYSLAEKILRDAVQVNSTAHEVWNGLGEVLQAQGNDAAATE

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

>67885_67885_4_PPP1R21-TTC7B_PPP1R21_chr2_48737252_ENST00000294952_TTC7B_chr14_91124731_ENST00000357056_length(amino acids)=1211AA_BP=734
MYGAGEAMASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALS
EPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQ
NDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFV
QDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFL
RKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISK
HYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRK
PLLESVPYEEALANRRILLSSTESREGLAQQVQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVS
NTAGQDEATAKAVLEPIQSTSLIGTLTRTSDSEVPDVESREDLIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEAL
TEEMKLASQNISRLQCLERAMKFAFEEFHLWYQFALSLMAAGKSARAVKVLKECIRLKPDDATIPLLAAKLCMGSLHWLEEAEKFAKTVV
DVGEKTSEFKAKGYLALGLTYSLQATDASLRGMQEVLQRKALLAFQRAHSLSPTDHQAAFYLALQLAISRQIPEALGYVRQALQLQGDDA
NSLHLLALLLSAQKHYHDALNIIDMALSEYPENFILLFSKVKLQSLCRGPDEALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRTIADR
RQLNTITLPDFSDPETGNSPEAYFHGFPSLFSVSSVHATSVAASRVEQALSEVASSLQSSAPKQGPLHPWMTLAQIWLHAAEVYIGIGKP
AEATACTQEAANLFPMSHNVLYMRGQIAELRGSMDEARRWYEEALAISPTHVKSMQRLALILHQLGRYSLAEKILRDAVQVNSTAHEVWN

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

>67885_67885_5_PPP1R21-TTC7B_PPP1R21_chr2_48737252_ENST00000449090_TTC7B_chr14_91124731_ENST00000328459_length(amino acids)=1152AA_BP=692
MYGAGEAMASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALS
EPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQ
NDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFV
QDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFL
RKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISK
HYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRK
VQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVSNTAGQDEATAKAVLEPIQSTSLVPDVESRED
LIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEALTEEMKLASQNISRLQCLERAMKFAFEEFHLWYQFALSLMAAG
KSARAVKVLKECIRLKPDDATIPLLAAKLCMGSLHWLEEAEKFAKTVVDVGEKTSEFKAKGYLALGLTYSLQATDASLRGMQEVLQRKAL
LAFQRAHSLSPTDHQAAFYLALQLAISRQIPEALGYVRQALQLQGDDANSLHLLALLLSAQKHYHDALNIIDMALSEYPENFILLFSKVK
LQSLCRGPDEALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRTIADRRQLNTITLPDFSDPETGSVHATSVAASRVEQALSEVASSLQS
SAPKQGPLHPWMTLAQIWLHAAEVYIGIGKPAEATACTQEAANLFPMSHNVLYMRGQIAELRGSMDEARRWYEEALAISPTHVKSMQRLA

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

>67885_67885_6_PPP1R21-TTC7B_PPP1R21_chr2_48737252_ENST00000449090_TTC7B_chr14_91124731_ENST00000357056_length(amino acids)=1169AA_BP=692
MYGAGEAMASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALS
EPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQ
NDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFV
QDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFL
RKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISK
HYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRK
VQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVSNTAGQDEATAKAVLEPIQSTSLVPDVESRED
LIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEALTEEMKLASQNISRLQCLERAMKFAFEEFHLWYQFALSLMAAG
KSARAVKVLKECIRLKPDDATIPLLAAKLCMGSLHWLEEAEKFAKTVVDVGEKTSEFKAKGYLALGLTYSLQATDASLRGMQEVLQRKAL
LAFQRAHSLSPTDHQAAFYLALQLAISRQIPEALGYVRQALQLQGDDANSLHLLALLLSAQKHYHDALNIIDMALSEYPENFILLFSKVK
LQSLCRGPDEALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRTIADRRQLNTITLPDFSDPETGNSPEAYFHGFPSLFSVSSVHATSVA
ASRVEQALSEVASSLQSSAPKQGPLHPWMTLAQIWLHAAEVYIGIGKPAEATACTQEAANLFPMSHNVLYMRGQIAELRGSMDEARRWYE

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

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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/chr2:48737252/chr14:91124731)
- 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
PPP1R21 Q6ZMI0	.
FUNCTION: Putative regulator of protein phosphatase 1 (PP1) activity (PubMed:19389623). May play a role in the endosomal sorting process or in endosome maturation pathway (PubMed:30520571). {ECO:0000269\|PubMed:30520571, ECO:0000305\|PubMed:19389623}.	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.

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

Hgene

PPP1R21

chr2:48737252

chr14:91124731

ENST00000281394

1_207

717.0

770.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R21

chr2:48737252

chr14:91124731

ENST00000281394

556_607

717.0

770.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R21

chr2:48737252

chr14:91124731

ENST00000294952

1_207

728.0

781.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R21

chr2:48737252

chr14:91124731

ENST00000294952

556_607

728.0

781.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R21

chr2:48737252

chr14:91124731

ENST00000449090

1_207

686.0

739.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R21

chr2:48737252

chr14:91124731

ENST00000449090

556_607

686.0

739.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

397_430

384.0

844.0

Repeat

Note=TPR 4

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

479_514

384.0

844.0

Repeat

Note=TPR 5

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

516_548

384.0

844.0

Repeat

Note=TPR 6

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

549_582

384.0

844.0

Repeat

Note=TPR 7

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

696_729

384.0

844.0

Repeat

Note=TPR 8

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

730_763

384.0

844.0

Repeat

Note=TPR 9

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

765_797

384.0

844.0

Repeat

Note=TPR 10

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

798_831

384.0

844.0

Repeat

Note=TPR 11

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

397_430

384.0

861.0

Repeat

Note=TPR 4

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

479_514

384.0

861.0

Repeat

Note=TPR 5

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

516_548

384.0

861.0

Repeat

Note=TPR 6

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

549_582

384.0

861.0

Repeat

Note=TPR 7

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

696_729

384.0

861.0

Repeat

Note=TPR 8

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

730_763

384.0

861.0

Repeat

Note=TPR 9

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

765_797

384.0

861.0

Repeat

Note=TPR 10

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

798_831

384.0

861.0

Repeat

Note=TPR 11

- 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

PPP1R21

chr2:48737252

chr14:91124731

ENST00000281394

693_742

717.0

770.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R21

chr2:48737252

chr14:91124731

ENST00000294952

693_742

728.0

781.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PPP1R21

chr2:48737252

chr14:91124731

ENST00000449090

693_742

686.0

739.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

329_333

384.0

844.0

Compositional bias

Note=Poly-Leu

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

329_333

384.0

861.0

Compositional bias

Note=Poly-Leu

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

219_252

384.0

844.0

Repeat

Note=TPR 2

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

363_396

384.0

844.0

Repeat

Note=TPR 3

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000328459

97_131

384.0

844.0

Repeat

Note=TPR 1

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

219_252

384.0

861.0

Repeat

Note=TPR 2

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

363_396

384.0

861.0

Repeat

Note=TPR 3

Tgene

TTC7B

chr2:48737252

chr14:91124731

ENST00000357056

97_131

384.0

861.0

Repeat

Note=TPR 1

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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 >>>1934_PPP1R21_48737252_TTC7B_91124731_ranked_0.pdb	PPP1R21	48737252	48737252	ENST00000328459	TTC7B	chr14	91124731	-	MYGAGEAMASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALS EPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQ NDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFV QDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFL RKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISK HYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRK PLLESVPYEEALANRRILLSSTESREGLAQQVQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVS NTAGQDEATAKAVLEPIQSTSLIGTLTRTSDSEVPDVESREDLIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEAL TEEMKLASQNISRLQCLERAMKFAFEEFHLWYQFALSLMAAGKSARAVKVLKECIRLKPDDATIPLLAAKLCMGSLHWLEEAEKFAKTVV DVGEKTSEFKAKGYLALGLTYSLQATDASLRGMQEVLQRKALLAFQRAHSLSPTDHQAAFYLALQLAISRQIPEALGYVRQALQLQGDDA NSLHLLALLLSAQKHYHDALNIIDMALSEYPENFILLFSKVKLQSLCRGPDEALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRTIADR RQLNTITLPDFSDPETGNSPEAYFHGFPSLFSVSSVHATSVAASRVEQALSEVASSLQSSAPKQGPLHPWMTLAQIWLHAAEVYIGIGKP AEATACTQEAANLFPMSHNVLYMRGQIAELRGSMDEARRWYEEALAISPTHVKSMQRLALILHQLGRYSLAEKILRDAVQVNSTAHEVWN	1211

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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.

PPP1R21_pLDDT.png

TTC7B_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
PPP1R21
TTC7B

- 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 PPP1R21-TTC7B

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 PPP1R21-TTC7B

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