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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:SMPX-PDHA1 (FusionGDB2 ID:84269)

Fusion Gene Summary for SMPX-PDHA1

Fusion gene summary

Fusion gene information	Fusion gene name: SMPX-PDHA1
	Fusion gene ID: 84269
		Hgene	Tgene
	Gene symbol	SMPX	PDHA1
	Gene ID	23676	5160
	Gene name	small muscle protein X-linked	pyruvate dehydrogenase E1 subunit alpha 1
	Synonyms	Chisel\|Csl\|DFN6\|DFNX4	PDHA\|PDHAD\|PDHCE1A\|PHE1A
	Cytomap	Xp22.12	Xp22.12
	Type of gene	protein-coding	protein-coding
	Description	small muscular proteindeafness, X-linked 6, sensorineuralstretch-responsive skeletal muscle protein	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialPDHE1-A type Ipyruvate dehydrogenase (lipoamide) alpha 1pyruvate dehydrogenase E1 alpha 1 subunitpyruvate dehydrogenase E1 subunitpyruvate dehydrogenase alpha 1pyruvate de
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000379494, ENST00000494525,	ENST00000379804, ENST00000478795, ENST00000379805, ENST00000379806, ENST00000422285, ENST00000540249, ENST00000545074,
Fusion gene scores	* DoF score	2 X 2 X 2=8	8 X 8 X 4=256
	# samples	2	9
	** MAII score	log2(2/8*10)=1.32192809488736	log2(9/256*10)=-1.50814690367033 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SMPX [Title/Abstract] AND PDHA1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SMPX(21761868)-PDHA1(19367430), # samples:3
Anticipated loss of major functional domain due to fusion event.

* 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	PDHA1	GO:0006086	acetyl-CoA biosynthetic process from pyruvate	19081061

Fusion gene breakpoints across SMPX (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 PDHA1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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	SARC	TCGA-QQ-A5VA-01A	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+

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Fusion Gene ORF analysis for SMPX-PDHA1

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000379494	ENST00000379804	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
5CDS-intron	ENST00000379494	ENST00000478795	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
5UTR-3CDS	ENST00000494525	ENST00000379805	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
5UTR-3CDS	ENST00000494525	ENST00000379806	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
5UTR-3CDS	ENST00000494525	ENST00000422285	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
5UTR-3CDS	ENST00000494525	ENST00000540249	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
5UTR-3CDS	ENST00000494525	ENST00000545074	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
5UTR-intron	ENST00000494525	ENST00000379804	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
5UTR-intron	ENST00000494525	ENST00000478795	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
In-frame	ENST00000379494	ENST00000379805	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
In-frame	ENST00000379494	ENST00000379806	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
In-frame	ENST00000379494	ENST00000422285	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
In-frame	ENST00000379494	ENST00000540249	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+
In-frame	ENST00000379494	ENST00000545074	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)
ENST00000379494	SMPX	chrX	21761868	-	ENST00000545074	PDHA1	chrX	19367430	+	3555	366	234	1502	422
ENST00000379494	SMPX	chrX	21761868	-	ENST00000540249	PDHA1	chrX	19367430	+	3441	366	234	1388	384
ENST00000379494	SMPX	chrX	21761868	-	ENST00000379806	PDHA1	chrX	19367430	+	3534	366	234	1481	415
ENST00000379494	SMPX	chrX	21761868	-	ENST00000422285	PDHA1	chrX	19367430	+	3514	366	234	1481	415
ENST00000379494	SMPX	chrX	21761868	-	ENST00000379805	PDHA1	chrX	19367430	+	973	366	818	120	232

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
ENST00000379494	ENST00000545074	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+	0.000567226	0.99943274
ENST00000379494	ENST00000540249	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+	0.000855438	0.99914455
ENST00000379494	ENST00000379806	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+	0.000431398	0.99956864
ENST00000379494	ENST00000422285	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+	0.000456556	0.99954337
ENST00000379494	ENST00000379805	SMPX	chrX	21761868	-	PDHA1	chrX	19367430	+	0.003348408	0.9966516

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Fusion Genomic Features for SMPX-PDHA1

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
SMPX	chrX	21761867	-	PDHA1	chrX	19367429	+	0.19045718	0.8095428
SMPX	chrX	21761867	-	PDHA1	chrX	19367429	+	0.19045718	0.8095428

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SMPX-PDHA1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chrX:21761868/chrX:19367430)
- 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
.	.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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.

- In-frame and 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

- In-frame and 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

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Fusion Gene Sequence for SMPX-PDHA1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>84269_84269_1_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000379805_length(transcript)=973nt_BP=366nt
AACACTTAGCCTTAACGGTTTAAGTTCCCCTCCAGCCCCGAGCCAGGAGCAGTTCTCAATACCGGGAGAGGCACAGAGCTATTTCAGCCA
CATGAAAAGCATCGGAATTGAGATCGCAGCTCAGAGGACACCGGGCGCCCCTTCCACCTTCCAAGGAGCTTTGTATTCTTGCATCTGGCT
GCCTGGGACTTCCCTTAGGCAGTAAACAAATACATAAAGCAGGGATAAGACTGCATGAATATGTCGAAACAGCCAGTTTCCAATGTTAGA
GCCATCCAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTG
GAGGAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAA
GAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAA
GCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGC
ATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAG
CTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTG
GGAGCGCAGGTAGTCAAGGACGAGGATTGTGTGCTGCTTTAGATTTGGCCCTGGACTTTGTCTTCAAAAACTTTCACAGCCCCAGACAAC

>84269_84269_1_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000379805_length(amino acids)=232AA_BP=1
MRSHDAIAPVEVLGIHVHRSSFPFSTTSFSSCKLCENFSDGKAPGESKAVSPVGCDEMVCGVDAGLQAHTASFLTITQVTETTNNFLFIQ
LICFQLHSAYSLHHPVVFEPILPGEHCCDRRAFFQPVKVTFLNFKCSIICKITGCYQHSACLLHFRSTFFSSGGLTCSWPKGSHWNIDIC

--------------------------------------------------------------
>84269_84269_2_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000379806_length(transcript)=3534nt_BP=366nt
AACACTTAGCCTTAACGGTTTAAGTTCCCCTCCAGCCCCGAGCCAGGAGCAGTTCTCAATACCGGGAGAGGCACAGAGCTATTTCAGCCA
CATGAAAAGCATCGGAATTGAGATCGCAGCTCAGAGGACACCGGGCGCCCCTTCCACCTTCCAAGGAGCTTTGTATTCTTGCATCTGGCT
GCCTGGGACTTCCCTTAGGCAGTAAACAAATACATAAAGCAGGGATAAGACTGCATGAATATGTCGAAACAGCCAGTTTCCAATGTTAGA
GCCATCCAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTG
GAGGAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAA
GAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAA
GCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGC
ATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAG
CTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTG
GGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGT
GCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTAT
GGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATG
GATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTAC
CGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATT
ATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAG
GATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTT
CGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGT
TCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGT
AGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTG
AACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTAT
GGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTAC
AAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGG
CCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTC
GTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGT
TTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGACAGGGTCGGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCAT
GGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAAT
ATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGAC
AGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAA
GCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTG
AGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTT
CAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAAATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTG
TCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCAGAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCA
GTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGC
CAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATA
GAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAAC
TGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAA
CAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAAT
TGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAAT
ACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTTCAAAAGTAACCAGTTGGATTAATAAATGATTCCAGAATG

>84269_84269_2_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000379806_length(amino acids)=415AA_BP=44
MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYY
RMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHM
YAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKR
GDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEEL

--------------------------------------------------------------
>84269_84269_3_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000422285_length(transcript)=3514nt_BP=366nt
AACACTTAGCCTTAACGGTTTAAGTTCCCCTCCAGCCCCGAGCCAGGAGCAGTTCTCAATACCGGGAGAGGCACAGAGCTATTTCAGCCA
CATGAAAAGCATCGGAATTGAGATCGCAGCTCAGAGGACACCGGGCGCCCCTTCCACCTTCCAAGGAGCTTTGTATTCTTGCATCTGGCT
GCCTGGGACTTCCCTTAGGCAGTAAACAAATACATAAAGCAGGGATAAGACTGCATGAATATGTCGAAACAGCCAGTTTCCAATGTTAGA
GCCATCCAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTG
GAGGAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAA
GAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAA
GCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGC
ATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAG
CTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTG
GGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGT
GCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTAT
GGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATG
GATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTAC
CGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATT
ATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAG
GATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTT
CGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGT
TCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGT
AGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTG
AACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTAT
GGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTAC
AAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGG
CCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTC
GTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGT
TTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGACAGGGTCGGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCAT
GGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAAT
ATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGAC
AGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAA
GCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTG
AGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTT
CAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAAATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTG
TCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCAGAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCA
GTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGC
CAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATA
GAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAAC
TGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAA
CAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAAT
TGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAAT
ACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTTCAAAAGTAACCAGTTGGATTAATAAATGATTCCAGAATG

>84269_84269_3_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000422285_length(amino acids)=415AA_BP=44
MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYY
RMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHM
YAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKR
GDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEEL

--------------------------------------------------------------
>84269_84269_4_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000540249_length(transcript)=3441nt_BP=366nt
AACACTTAGCCTTAACGGTTTAAGTTCCCCTCCAGCCCCGAGCCAGGAGCAGTTCTCAATACCGGGAGAGGCACAGAGCTATTTCAGCCA
CATGAAAAGCATCGGAATTGAGATCGCAGCTCAGAGGACACCGGGCGCCCCTTCCACCTTCCAAGGAGCTTTGTATTCTTGCATCTGGCT
GCCTGGGACTTCCCTTAGGCAGTAAACAAATACATAAAGCAGGGATAAGACTGCATGAATATGTCGAAACAGCCAGTTTCCAATGTTAGA
GCCATCCAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTG
GAGGAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAA
GAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAA
GCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGC
ATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAG
CTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTG
GGAGCGCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGA
ATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGAT
ATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGT
TACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATG
CTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGAT
GCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGT
GGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCT
CAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGT
AATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAAC
AAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGC
GGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAG
ATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCA
CATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTA
TCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTC
ACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGACAGGGTCGGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGC
TCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATT
CCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGT
ATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCT
TTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGC
CCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAA
GCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAAATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCC
CAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCAGAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTT
TAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAG
CTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAA
CTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGT
TTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAA
TCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGT
CTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACC
TGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTTCAAAAGTAACCAGTTGGATTAATAAATGATTCCAGAATGTAA

>84269_84269_4_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000540249_length(amino acids)=384AA_BP=44
MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYY
RMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHM
YAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSG
KGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGY

--------------------------------------------------------------
>84269_84269_5_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000545074_length(transcript)=3555nt_BP=366nt
AACACTTAGCCTTAACGGTTTAAGTTCCCCTCCAGCCCCGAGCCAGGAGCAGTTCTCAATACCGGGAGAGGCACAGAGCTATTTCAGCCA
CATGAAAAGCATCGGAATTGAGATCGCAGCTCAGAGGACACCGGGCGCCCCTTCCACCTTCCAAGGAGCTTTGTATTCTTGCATCTGGCT
GCCTGGGACTTCCCTTAGGCAGTAAACAAATACATAAAGCAGGGATAAGACTGCATGAATATGTCGAAACAGCCAGTTTCCAATGTTAGA
GCCATCCAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTG
GAGGAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAA
GAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAA
GCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGTGATGGTCAGTTTCTCCTTCCTCTAACACAGGAAGCTTGC
TGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCC
GTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTC
TACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGAAAAGATGAGGTCTGC
CTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTC
ATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAGAGAGGCGATTTCATTCCT
GGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGGGCCCATC
CTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGAGAAGAAATTCAGGAAGTA
AGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGAAATTGATGTG
GAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCC
AGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAGAAGGAGAGGTTATACCTT
CAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAATTCTTGGAAACTTCCATT
AAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAGTGCTTAAAGATTATTTTT
GACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTCCCCTGCCCCCAGCCACC
TTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGCGCTGGTGCTGCAGCCTGT
TCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAGACTTTTGTAATCATTCCA
ATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTATTTTCTGTTCATATCAAA
CATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAGTGTCCCAGCTTCCATGTT
TGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGACAGGGTCGGGCTCTGTTGCCCAGGCT
GGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGCATAGCTGGG
ACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTCTATGTTTATAAATAACAG
GTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAATATGTAAACACAGCGGAA
TTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGATTGGTATCAAGCCTTGTC
TTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACCCCTGGGAAACAAACACAG
CTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAAATAAAAACATTCTCCTCA
CATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCAGAGAGCTGGCTATTTCAAATGACTCG
GGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTCCACCCACTCCCAGCCAGG
CATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTTTCTGCCCCACCTTGGCTT
TTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAGCATATTCACACATAAAAA
GTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGATCTCATTAAGAATATCCG
AAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAACAGCATAAGAATTTCTTTG
TTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATCTGTTCTCTGCCCGTAGGG
GCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTTCAAAAGTAACCAGTTGGA

>84269_84269_5_SMPX-PDHA1_SMPX_chrX_21761868_ENST00000379494_PDHA1_chrX_19367430_ENST00000545074_length(amino acids)=422AA_BP=44
MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYY
RMMQTVRRMELKADQLYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKG
KGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAA
STDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSN

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

Top

Fusion Gene PPI Analysis for SMPX-PDHA1

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs for SMPX-PDHA1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

Related Diseases for SMPX-PDHA1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source