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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ERC1-GABRB1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ERC1-GABRB1
	FusionPDB ID: 27261
	FusionGDB2.0 ID: 27261
		Hgene	Tgene
	Gene symbol	ERC1	GABRB1
	Gene ID	23085	2560
	Gene name	ELKS/RAB6-interacting/CAST family member 1	gamma-aminobutyric acid type A receptor subunit beta1
	Synonyms	Cast2\|ELKS\|ERC-1\|RAB6IP2	EIEE45
	Cytomap	12p13.33	4p12
	Type of gene	protein-coding	protein-coding
	Description	ELKS/Rab6-interacting/CAST family member 1RAB6 interacting protein 2	gamma-aminobutyric acid receptor subunit beta-1gamma-aminobutyric acid (GABA) A receptor, beta 1gamma-aminobutyric acid type A receptor beta1 subunit
	Modification date	20200313	20200313
	UniProtAcc	Q8IUD2	P18505
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000536573, ENST00000355446, ENST00000360905, ENST00000397203, ENST00000543086, ENST00000546231, ENST00000589028,	ENST00000295454, ENST00000538619, ENST00000509366,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	32 X 23 X 16=11776	5 X 2 X 4=40
	# samples	38	5
	** MAII score	log2(38/11776*10)=-4.95370634772607 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ERC1 [Title/Abstract] AND GABRB1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ERC1(1299218)-GABRB1(47322144), # samples:1
Anticipated loss of major functional domain due to fusion event.	ERC1-GABRB1 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. ERC1-GABRB1 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. ERC1-GABRB1 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. ERC1-GABRB1 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
Hgene	ERC1	GO:0007252	I-kappaB phosphorylation	15218148
Tgene	GABRB1	GO:1902476	chloride transmembrane transport	9039914

Fusion gene breakpoints across ERC1 (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 GABRB1 (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	STAD	TCGA-CG-4476-01A	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+

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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)
ENST00000543086	ERC1	chr12	1299218	-	ENST00000295454	GABRB1	chr4	47322144	+	3928	2538	271	3501	1076
ENST00000543086	ERC1	chr12	1299218	-	ENST00000538619	GABRB1	chr4	47322144	+	3624	2538	271	3501	1076
ENST00000546231	ERC1	chr12	1299218	-	ENST00000295454	GABRB1	chr4	47322144	+	4269	2879	528	3842	1104
ENST00000546231	ERC1	chr12	1299218	-	ENST00000538619	GABRB1	chr4	47322144	+	3965	2879	528	3842	1104
ENST00000397203	ERC1	chr12	1299218	-	ENST00000295454	GABRB1	chr4	47322144	+	4147	2757	406	3720	1104
ENST00000397203	ERC1	chr12	1299218	-	ENST00000538619	GABRB1	chr4	47322144	+	3843	2757	406	3720	1104
ENST00000360905	ERC1	chr12	1299218	-	ENST00000295454	GABRB1	chr4	47322144	+	3922	2532	181	3495	1104
ENST00000360905	ERC1	chr12	1299218	-	ENST00000538619	GABRB1	chr4	47322144	+	3618	2532	181	3495	1104
ENST00000589028	ERC1	chr12	1299218	-	ENST00000295454	GABRB1	chr4	47322144	+	3898	2508	157	3471	1104
ENST00000589028	ERC1	chr12	1299218	-	ENST00000538619	GABRB1	chr4	47322144	+	3594	2508	157	3471	1104
ENST00000355446	ERC1	chr12	1299218	-	ENST00000295454	GABRB1	chr4	47322144	+	3873	2483	132	3446	1104
ENST00000355446	ERC1	chr12	1299218	-	ENST00000538619	GABRB1	chr4	47322144	+	3569	2483	132	3446	1104

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
ENST00000543086	ENST00000295454	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.002564552	0.9974355
ENST00000543086	ENST00000538619	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.003523902	0.9964761
ENST00000546231	ENST00000295454	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.002798093	0.9972019
ENST00000546231	ENST00000538619	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.003724259	0.9962758
ENST00000397203	ENST00000295454	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.002409953	0.99759007
ENST00000397203	ENST00000538619	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.003343345	0.99665666
ENST00000360905	ENST00000295454	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.002189825	0.9978102
ENST00000360905	ENST00000538619	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.003123717	0.99687624
ENST00000589028	ENST00000295454	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.001958611	0.9980414
ENST00000589028	ENST00000538619	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.002754836	0.9972452
ENST00000355446	ENST00000295454	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.002014043	0.99798596
ENST00000355446	ENST00000538619	ERC1	chr12	1299218	-	GABRB1	chr4	47322144	+	0.002868391	0.9971316

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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

>27261_27261_1_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000355446_GABRB1_chr4_47322144_ENST00000295454_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_2_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000355446_GABRB1_chr4_47322144_ENST00000538619_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_3_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000360905_GABRB1_chr4_47322144_ENST00000295454_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_4_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000360905_GABRB1_chr4_47322144_ENST00000538619_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_5_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000397203_GABRB1_chr4_47322144_ENST00000295454_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_6_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000397203_GABRB1_chr4_47322144_ENST00000538619_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_7_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000543086_GABRB1_chr4_47322144_ENST00000295454_length(amino acids)=1076AA_BP=755
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKIGQVKQELSRK
DTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNKKTKQIQDMAEEKGTQAGEIHDLKDMLDV
KERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIERLKEQRDRDEREKQEEIDNYKKDLKDLK
EKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKAHEAALEARASPEMSDRIQHLEREITRYK
DESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIEL
PQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLP
KIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVS

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

>27261_27261_8_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000543086_GABRB1_chr4_47322144_ENST00000538619_length(amino acids)=1076AA_BP=755
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKIGQVKQELSRK
DTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNKKTKQIQDMAEEKGTQAGEIHDLKDMLDV
KERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIERLKEQRDRDEREKQEEIDNYKKDLKDLK
EKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKAHEAALEARASPEMSDRIQHLEREITRYK
DESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIEL
PQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLP
KIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVS

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

>27261_27261_9_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000546231_GABRB1_chr4_47322144_ENST00000295454_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_10_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000546231_GABRB1_chr4_47322144_ENST00000538619_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_11_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000589028_GABRB1_chr4_47322144_ENST00000295454_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

>27261_27261_12_ERC1-GABRB1_ERC1_chr12_1299218_ENST00000589028_GABRB1_chr4_47322144_ENST00000538619_length(amino acids)=1104AA_BP=783
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMT
LGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRL
HAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKERVKSLQADTTNTDTALTTLEEALAEKERTIE
RLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIAELERITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYD
ASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID

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

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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/chr12:1299218/chr4:47322144)
- 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
ERC1 Q8IUD2	GABRB1 P18505
FUNCTION: Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. {ECO:0000269\|PubMed:15218148}.	FUNCTION: Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel. {ECO:0000269\|PubMed:26950270}.

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

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

180_182

153.66666666666666

475.0

Region

Agonist binding

Tgene

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

290_311

153.66666666666666

475.0

Region

Allosteric effector binding

Tgene

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

328_451

153.66666666666666

475.0

Topological domain

Cytoplasmic

Tgene

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

246_267

153.66666666666666

475.0

Transmembrane

Helical

Tgene

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

271_293

153.66666666666666

475.0

Transmembrane

Helical

Tgene

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

305_327

153.66666666666666

475.0

Transmembrane

Helical

Tgene

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

452_473

153.66666666666666

475.0

Transmembrane

Helical

- 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

ERC1

chr12:1299218

chr4:47322144

ENST00000360905

1060_1100

783.6666666666666

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000360905

144_988

783.6666666666666

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000397203

1060_1100

783.6666666666666

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000397203

144_988

783.6666666666666

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000543086

1060_1100

755.6666666666666

1089.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000543086

144_988

755.6666666666666

1089.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000589028

1060_1100

783.6666666666666

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000589028

144_988

783.6666666666666

1117.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000360905

1046_1108

783.6666666666666

1117.0

Domain

FIP-RBD

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000397203

1046_1108

783.6666666666666

1117.0

Domain

FIP-RBD

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000543086

1046_1108

755.6666666666666

1089.0

Domain

FIP-RBD

Hgene

ERC1

chr12:1299218

chr4:47322144

ENST00000589028

1046_1108

783.6666666666666

1117.0

Domain

FIP-RBD

Tgene

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

120_122

153.66666666666666

475.0

Region

Agonist binding

Tgene

GABRB1

chr12:1299218

chr4:47322144

ENST00000295454

26_245

153.66666666666666

475.0

Topological domain

Extracellular

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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

ERC1

YWHAG, TWF2, RAB6A, RAB6B, KBTBD7, IKBKB, MAP3K7, IKBKG, XIAP, ITSN2, RAD23A, SH3KBP1, CHUK, NFKBIA, CUL3, APP, ATP6V0D1, NCBP1, WDR4, ERC2, MYC, PAN2, CDK19, MAPK4, CDK20, LATS2, STK4, GFOD1, ADPRHL2, SNX2, MED4, EWSR1, SRPK2, OFD1, PCM1, CEP104, CEP162, CEP152, CEP128, CEP135, CEP89, CNTRL, FBF1, NINL, NIN, SCLT1, SASS6, DVL2, SLC16A6, KIF23, MAPRE1, RACGAP1, CHST15, PPP1R21, Actb, Cd2ap, Kif4, Myh9, Ckap5, MACROD1, PCGF1, NANOG, POU5F1, NHLRC2, CDH1, EYA4, TSHB, SPERT, TRIM25, BRCA1, LNX1, EFTUD2, MYO6, AGR2, KIAA1429, FLCN, DNAJC5, GBF1, DYNC1I2, BICD1, BICD2, APEX1, DYRK1A, nsp13, LMBR1L, PLEKHA4, CYLD, DUSP1, RASSF8, nsp16, nsp7, CIT, ANLN, KIF14, TRIM33, nsp13ab, nsp16ab, SEC62, ORF6, MKRN3, ACTR3, AGPS, AMOT, ANAPC2, CYP2C9, DCTN2, ERGIC2, GOLGA1, IMPDH2, KDM1A, KRT18, KRT19, KRT8, NDC80, NEFM, PEX14, PFN1, PXN, SEPT10, SYNE3, TMOD1, NAA40, VPS33A, NUP62, FTL, DES, YWHAQ, SERF2, YWHAB, ING1, CEP112, MFAP4, C15orf59, YWHAH, PIPSL, KRT38, KRT37, ATG16L1, TBC1D32, E, ATRX,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ERC1
GABRB1

- 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 ERC1-GABRB1

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 ERC1-GABRB1

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
Hgene	ERC1	C0238463	Papillary thyroid carcinoma	1	ORPHANET
Hgene	ERC1	C4749581	Distal monosomy 12p	1	ORPHANET