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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:LAMA3-NDUFS8 (FusionGDB2 ID:43638) |
Fusion Gene Summary for LAMA3-NDUFS8 |
Fusion gene summary |
Fusion gene information | Fusion gene name: LAMA3-NDUFS8 | Fusion gene ID: 43638 | Hgene | Tgene | Gene symbol | LAMA3 | NDUFS8 | Gene ID | 3910 | 4728 |
Gene name | laminin subunit alpha 4 | NADH:ubiquinone oxidoreductase core subunit S8 | |
Synonyms | CMD1JJ|LAMA3|LAMA4*-1 | CI-23k|CI23KD|MC1DN2|TYKY | |
Cytomap | 6q21 | 11q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | laminin subunit alpha-4laminin alpha 4 chainlaminin, alpha 4 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)NADH-ubiquinone oxidoreductase 23 kDa subunitcomplex I 23kDa subunitcomplex I-23kD | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q16787 | O00217 | |
Ensembl transtripts involved in fusion gene | ENST00000313654, ENST00000399516, ENST00000269217, ENST00000587184, ENST00000588770, | ENST00000313468, ENST00000528492, ENST00000526542, | |
Fusion gene scores | * DoF score | 28 X 24 X 10=6720 | 3 X 3 X 3=27 |
# samples | 33 | 3 | |
** MAII score | log2(33/6720*10)=-4.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: LAMA3 [Title/Abstract] AND NDUFS8 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | LAMA3(21364121)-NDUFS8(67800390), # samples:2 | ||
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 | NDUFS8 | GO:0006979 | response to oxidative stress | 12857734 |
Fusion gene breakpoints across LAMA3 (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 NDUFS8 (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 | STAD | TCGA-BR-8297-01A | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
ChimerDB4 | STAD | TCGA-BR-8297-01A | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
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Fusion Gene ORF analysis for LAMA3-NDUFS8 |
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 |
In-frame | ENST00000313654 | ENST00000313468 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
5CDS-intron | ENST00000313654 | ENST00000528492 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
5CDS-intron | ENST00000313654 | ENST00000526542 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
In-frame | ENST00000399516 | ENST00000313468 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
5CDS-intron | ENST00000399516 | ENST00000528492 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
5CDS-intron | ENST00000399516 | ENST00000526542 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-3CDS | ENST00000269217 | ENST00000313468 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-intron | ENST00000269217 | ENST00000528492 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-intron | ENST00000269217 | ENST00000526542 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-3CDS | ENST00000587184 | ENST00000313468 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-intron | ENST00000587184 | ENST00000528492 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-intron | ENST00000587184 | ENST00000526542 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-3CDS | ENST00000588770 | ENST00000313468 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-intron | ENST00000588770 | ENST00000528492 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
intron-intron | ENST00000588770 | ENST00000526542 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + |
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) |
ENST00000313654 | LAMA3 | chr18 | 21364121 | + | ENST00000313468 | NDUFS8 | chr11 | 67800390 | + | 2419 | 1844 | 241 | 2367 | 708 |
ENST00000399516 | LAMA3 | chr18 | 21364121 | + | ENST00000313468 | NDUFS8 | chr11 | 67800390 | + | 2178 | 1603 | 0 | 2126 | 708 |
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 |
ENST00000313654 | ENST00000313468 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + | 0.005495565 | 0.9945044 |
ENST00000399516 | ENST00000313468 | LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800390 | + | 0.004732763 | 0.9952673 |
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Fusion Genomic Features for LAMA3-NDUFS8 |
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) |
LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800389 | + | 7.14E-06 | 0.99999285 |
LAMA3 | chr18 | 21364121 | + | NDUFS8 | chr11 | 67800389 | + | 7.14E-06 | 0.99999285 |
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 LAMA3-NDUFS8 |
Go to FGviewer for the breakpoints of chr18:21364121-chr11:67800390 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
LAMA3 | NDUFS8 |
FUNCTION: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.; FUNCTION: Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes. | FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22499348). Essential for the catalytic activity and assembly of complex I (PubMed:22499348). {ECO:0000269|PubMed:22499348}. |
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 * 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 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 299_355 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 1 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 356_425 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 2 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 426_469 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 3 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 43_298 | 534.3333333333334 | 3334.0 | Domain | Laminin N-terminal |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 491_535 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 4 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 299_355 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 1 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 356_425 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 2 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 426_469 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 3 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 43_298 | 534.3333333333334 | 3278.0 | Domain | Laminin N-terminal |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 491_535 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 4 |
Tgene | NDUFS8 | chr18:21364121 | chr11:67800390 | ENST00000313468 | 2 | 7 | 102_131 | 36.333333333333336 | 211.0 | Domain | 4Fe-4S ferredoxin-type 1 | |
Tgene | NDUFS8 | chr18:21364121 | chr11:67800390 | ENST00000313468 | 2 | 7 | 141_170 | 36.333333333333336 | 211.0 | Domain | 4Fe-4S ferredoxin-type 2 |
- 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 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1852_1941 | 534.3333333333334 | 3334.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1987_2169 | 534.3333333333334 | 3334.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 2322_2388 | 534.3333333333334 | 3334.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1852_1941 | 534.3333333333334 | 3278.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1987_2169 | 534.3333333333334 | 3278.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 2322_2388 | 534.3333333333334 | 3278.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1852_1941 | 0.0 | 1669.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1987_2169 | 0.0 | 1669.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 2322_2388 | 0.0 | 1669.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1266_1311 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 9 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1312_1355 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 10 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1356_1404 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 11 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1405_1455 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 12 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1476_1653 | 534.3333333333334 | 3334.0 | Domain | Laminin IV type A |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1687_1733 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 13 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1734_1786 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 14 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1787_1821 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 15%3B truncated |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 2390_2591 | 534.3333333333334 | 3334.0 | Domain | Laminin G-like 1 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 2598_2760 | 534.3333333333334 | 3334.0 | Domain | Laminin G-like 2 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 2767_2927 | 534.3333333333334 | 3334.0 | Domain | Laminin G-like 3 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 2986_3150 | 534.3333333333334 | 3334.0 | Domain | Laminin G-like 4 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 3157_3330 | 534.3333333333334 | 3334.0 | Domain | Laminin G-like 5 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 536_588 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 5 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 590_630 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 6 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 631_683 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 7 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 684_728 | 534.3333333333334 | 3334.0 | Domain | Laminin EGF-like 8 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1266_1311 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 9 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1312_1355 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 10 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1356_1404 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 11 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1405_1455 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 12 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1476_1653 | 534.3333333333334 | 3278.0 | Domain | Laminin IV type A |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1687_1733 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 13 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1734_1786 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 14 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1787_1821 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 15%3B truncated |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 2390_2591 | 534.3333333333334 | 3278.0 | Domain | Laminin G-like 1 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 2598_2760 | 534.3333333333334 | 3278.0 | Domain | Laminin G-like 2 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 2767_2927 | 534.3333333333334 | 3278.0 | Domain | Laminin G-like 3 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 2986_3150 | 534.3333333333334 | 3278.0 | Domain | Laminin G-like 4 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 3157_3330 | 534.3333333333334 | 3278.0 | Domain | Laminin G-like 5 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 536_588 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 5 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 590_630 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 6 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 631_683 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 7 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 684_728 | 534.3333333333334 | 3278.0 | Domain | Laminin EGF-like 8 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1266_1311 | 0.0 | 1669.0 | Domain | Laminin EGF-like 9 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1312_1355 | 0.0 | 1669.0 | Domain | Laminin EGF-like 10 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1356_1404 | 0.0 | 1669.0 | Domain | Laminin EGF-like 11 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1405_1455 | 0.0 | 1669.0 | Domain | Laminin EGF-like 12 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1476_1653 | 0.0 | 1669.0 | Domain | Laminin IV type A |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1687_1733 | 0.0 | 1669.0 | Domain | Laminin EGF-like 13 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1734_1786 | 0.0 | 1669.0 | Domain | Laminin EGF-like 14 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1787_1821 | 0.0 | 1669.0 | Domain | Laminin EGF-like 15%3B truncated |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 2390_2591 | 0.0 | 1669.0 | Domain | Laminin G-like 1 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 2598_2760 | 0.0 | 1669.0 | Domain | Laminin G-like 2 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 2767_2927 | 0.0 | 1669.0 | Domain | Laminin G-like 3 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 2986_3150 | 0.0 | 1669.0 | Domain | Laminin G-like 4 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 299_355 | 0.0 | 1669.0 | Domain | Laminin EGF-like 1 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 3157_3330 | 0.0 | 1669.0 | Domain | Laminin G-like 5 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 356_425 | 0.0 | 1669.0 | Domain | Laminin EGF-like 2 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 426_469 | 0.0 | 1669.0 | Domain | Laminin EGF-like 3 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 43_298 | 0.0 | 1669.0 | Domain | Laminin N-terminal |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 491_535 | 0.0 | 1669.0 | Domain | Laminin EGF-like 4 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 536_588 | 0.0 | 1669.0 | Domain | Laminin EGF-like 5 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 590_630 | 0.0 | 1669.0 | Domain | Laminin EGF-like 6 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 631_683 | 0.0 | 1669.0 | Domain | Laminin EGF-like 7 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 684_728 | 0.0 | 1669.0 | Domain | Laminin EGF-like 8 |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 2278_2280 | 534.3333333333334 | 3334.0 | Motif | Cell attachment site |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 2278_2280 | 534.3333333333334 | 3278.0 | Motif | Cell attachment site |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 2278_2280 | 0.0 | 1669.0 | Motif | Cell attachment site |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1266_1465 | 534.3333333333334 | 3334.0 | Region | Note=Domain III B |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1654_1821 | 534.3333333333334 | 3334.0 | Region | Note=Domain III A |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 1822_2389 | 534.3333333333334 | 3334.0 | Region | Note=Domain II and I |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 298_728 | 534.3333333333334 | 3334.0 | Region | Note=Domain V |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000313654 | + | 12 | 75 | 796_1265 | 534.3333333333334 | 3334.0 | Region | Note=Domain IV 1 (domain IV B) |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1266_1465 | 534.3333333333334 | 3278.0 | Region | Note=Domain III B |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1654_1821 | 534.3333333333334 | 3278.0 | Region | Note=Domain III A |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 1822_2389 | 534.3333333333334 | 3278.0 | Region | Note=Domain II and I |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 298_728 | 534.3333333333334 | 3278.0 | Region | Note=Domain V |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000399516 | + | 12 | 74 | 796_1265 | 534.3333333333334 | 3278.0 | Region | Note=Domain IV 1 (domain IV B) |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1266_1465 | 0.0 | 1669.0 | Region | Note=Domain III B |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1654_1821 | 0.0 | 1669.0 | Region | Note=Domain III A |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 1822_2389 | 0.0 | 1669.0 | Region | Note=Domain II and I |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 298_728 | 0.0 | 1669.0 | Region | Note=Domain V |
Hgene | LAMA3 | chr18:21364121 | chr11:67800390 | ENST00000587184 | + | 1 | 37 | 796_1265 | 0.0 | 1669.0 | Region | Note=Domain IV 1 (domain IV B) |
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Fusion Gene Sequence for LAMA3-NDUFS8 |
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. |
>In-frame_ENST00000313654_ENST00000313468_TCGA-BR-8297-01A_LAMA3_chr18_21364121_+_NDUFS8_chr11_67800390_length(transcript)=2419nt_BP=1844nt GAGCGCTGTCAGTTCCTGATCCGGCTGGTGCCCGCTCCAGCCGCGGCAGGTTCCAGAGCTGAGAGGCCACCCCCACGCCGCGGGCTTCCA GCGCGTGGAGCAAGGGGAGCGGCCCCGGCGCCGCCCATATCCCCGGCTGCGCTAGTCCTGGCGCTGCAGGTCCGGGAGGCGCAGGCGGAG AGCGGCGGTGCCCCCGAGCCCCTCTGCGGACGGCTCAGGCGGGAGGACCCCGCGCGGCTGGATGGCGGCGGCCGCGCGGCCTCGGGGTCG GGCACTGGGGCCAGTACTGCCGCCGACGCCGCTGCTCCTGCTGGTACTGCGGGTGCTGCCAGCCTGCGGGGCGACCGCTCGGGATCCCGG GGCCGCGGCCGGGCTCAGCCTTCACCCGACTTACTTCAACCTGGCCGAGGCGGCGAGGATTTGGGCCACCGCCACCTGCGGGGAGAGGGG ACCCGGCGAGGGGAGGCCCCAGCCCGAGCTCTACTGCAAGTTGGTCGGGGGCCCCACCGCCCCAGGCAGCGGCCACACCATCCAGGGCCA GTTCTGTGACTATTGCAATTCTGAAGACCCCAGGAAAGCACATCCTGTCACCAATGCCATCGATGGATCTGAACGTTGGTGGCAAAGCCC TCCCCTGTCCTCAGGCACACAGTACAACAGAGTCAACCTCACCTTGGATCTGGGGCAGCTCTTCCATGTGGCCTATATTTTAATCAAATT TGCAAATTCTCCTCGCCCTGATCTTTGGGTCTTGGAAAGATCTGTAGACTTTGGAAGCACCTACTCACCATGGCAATATTTTGCTCATTC TAAAGTAGACTGTTTAAAAGAATTTGGGCGGGAGGCAAATATGGCTGTCACCCGGGATGATGATGTACTTTGTGTTACTGAATATTCCCG TATTGTACCTTTGGAAAATGGTGAGGTTGTGGTGTCCTTGATAAACGGTCGTCCAGGTGCAAAAAATTTTACTTTCTCTCACACCCTGAG GGAGTTTACCAAGGCAACAAACATCCGCTTGCGTTTTCTTAGAACCAATACGCTTCTTGGACACCTCATCTCCAAAGCCCAGCGAGATCC AACTGTCACTCGGCGGTATTATTACAGCATAAAGGACATCAGCATTGGTGGGCAGTGTGTTTGCAATGGCCATGCTGAAGTGTGCAATAT AAACAATCCTGAAAAACTGTTTCGGTGTGAATGCCAGCACCACACCTGTGGGGAGACGTGTGATCGCTGCTGCACAGGGTACAATCAGAG GCGCTGGCGGCCCGCCGCTTGGGAGCAGAGCCACGAGTGTGAAGCATGCAACTGCCACGGCCATGCCAGCAACTGTTACTATGATCCAGA TGTTGAGCGGCAGCAGGCAAGCTTGAATACCCAGGGCATCTATGCTGGTGGAGGGGTCTGCATTAACTGTCAGCACAACACAGCTGGAGT AAACTGTGAACAGTGTGCTAAGGGCTATTACCGCCCTTATGGGGTTCCAGTGGATGCCCCTGATGGCTGCATCCCCTGCAGCTGTGACCC TGAGCATGCGGATGGCTGTGAACAGGGTTCAGGCCGCTGTCACTGCAAGCCAAATTTCCACGGAGACAACTGTGAGAAGTGTGCAATTGG ATACTACAATTTCCCATTTTGCTTGAGAATTCCCATTTTTCCTGTTTCTACACCAAGTTCAGAAGATCCAGTAGCTGGAGATATAAAAGG GTGTGACTGTAATCTGGAAGGTGTTCTCCCTGAAATATGTGATGCCCACGGACGGTGCCTGTGCCGCCCTGGGGTTGAGGGCCCTCGATG TGATACCTGCCGCTCTGGTTTCTACTCATTCCCTATTTGCCAAGAGTATGTGAACATGCAGGATCCCGAGATGGACATGAAGTCAGTGAC TGACCGGGCAGCCCGCACCCTGCTGTGGACTGAGCTCTTCCGAGGCCTGGGCATGACCCTGAGCTACCTGTTCCGGGAACCGGCCACCAT CAACTACCCGTTCGAGAAGGGCCCGCTGAGCCCTCGCTTCCGTGGGGAGCATGCGCTGCGCCGGTACCCATCCGGGGAGGAGCGTTGCAT TGCCTGCAAGCTCTGCGAGGCCATCTGCCCCGCCCAGGCCATCACCATCGAGGCTGAGCCAAGAGCTGATGGCAGCCGCCGGACCACCCG CTATGACATCGACATGACCAAGTGCATCTACTGCGGCTTCTGCCAGGAGGCCTGTCCCGTGGATGCCATCGTCGAGGGCCCCAACTTTGA GTTCTCCACGGAGACCCATGAGGAGCTGCTGTACAACAAGGAGAAGTTGCTCAACAACGGGGACAAGTGGGAGGCCGAGATCGCCGCCAA >In-frame_ENST00000313654_ENST00000313468_TCGA-BR-8297-01A_LAMA3_chr18_21364121_+_NDUFS8_chr11_67800390_length(amino acids)=708AA_start in transcript=241_stop in transcript=2367 MAAAARPRGRALGPVLPPTPLLLLVLRVLPACGATARDPGAAAGLSLHPTYFNLAEAARIWATATCGERGPGEGRPQPELYCKLVGGPTA PGSGHTIQGQFCDYCNSEDPRKAHPVTNAIDGSERWWQSPPLSSGTQYNRVNLTLDLGQLFHVAYILIKFANSPRPDLWVLERSVDFGST YSPWQYFAHSKVDCLKEFGREANMAVTRDDDVLCVTEYSRIVPLENGEVVVSLINGRPGAKNFTFSHTLREFTKATNIRLRFLRTNTLLG HLISKAQRDPTVTRRYYYSIKDISIGGQCVCNGHAEVCNINNPEKLFRCECQHHTCGETCDRCCTGYNQRRWRPAAWEQSHECEACNCHG HASNCYYDPDVERQQASLNTQGIYAGGGVCINCQHNTAGVNCEQCAKGYYRPYGVPVDAPDGCIPCSCDPEHADGCEQGSGRCHCKPNFH GDNCEKCAIGYYNFPFCLRIPIFPVSTPSSEDPVAGDIKGCDCNLEGVLPEICDAHGRCLCRPGVEGPRCDTCRSGFYSFPICQEYVNMQ DPEMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAICPAQAITIEAEP -------------------------------------------------------------- >In-frame_ENST00000399516_ENST00000313468_TCGA-BR-8297-01A_LAMA3_chr18_21364121_+_NDUFS8_chr11_67800390_length(transcript)=2178nt_BP=1603nt ATGGCGGCGGCCGCGCGGCCTCGGGGTCGGGCACTGGGGCCAGTACTGCCGCCGACGCCGCTGCTCCTGCTGGTACTGCGGGTGCTGCCA GCCTGCGGGGCGACCGCTCGGGATCCCGGGGCCGCGGCCGGGCTCAGCCTTCACCCGACTTACTTCAACCTGGCCGAGGCGGCGAGGATT TGGGCCACCGCCACCTGCGGGGAGAGGGGACCCGGCGAGGGGAGGCCCCAGCCCGAGCTCTACTGCAAGTTGGTCGGGGGCCCCACCGCC CCAGGCAGCGGCCACACCATCCAGGGCCAGTTCTGTGACTATTGCAATTCTGAAGACCCCAGGAAAGCACATCCTGTCACCAATGCCATC GATGGATCTGAACGTTGGTGGCAAAGCCCTCCCCTGTCCTCAGGCACACAGTACAACAGAGTCAACCTCACCTTGGATCTGGGGCAGCTC TTCCATGTGGCCTATATTTTAATCAAATTTGCAAATTCTCCTCGCCCTGATCTTTGGGTCTTGGAAAGATCTGTAGACTTTGGAAGCACC TACTCACCATGGCAATATTTTGCTCATTCTAAAGTAGACTGTTTAAAAGAATTTGGGCGGGAGGCAAATATGGCTGTCACCCGGGATGAT GATGTACTTTGTGTTACTGAATATTCCCGTATTGTACCTTTGGAAAATGGTGAGGTTGTGGTGTCCTTGATAAACGGTCGTCCAGGTGCA AAAAATTTTACTTTCTCTCACACCCTGAGGGAGTTTACCAAGGCAACAAACATCCGCTTGCGTTTTCTTAGAACCAATACGCTTCTTGGA CACCTCATCTCCAAAGCCCAGCGAGATCCAACTGTCACTCGGCGGTATTATTACAGCATAAAGGACATCAGCATTGGTGGGCAGTGTGTT TGCAATGGCCATGCTGAAGTGTGCAATATAAACAATCCTGAAAAACTGTTTCGGTGTGAATGCCAGCACCACACCTGTGGGGAGACGTGT GATCGCTGCTGCACAGGGTACAATCAGAGGCGCTGGCGGCCCGCCGCTTGGGAGCAGAGCCACGAGTGTGAAGCATGCAACTGCCACGGC CATGCCAGCAACTGTTACTATGATCCAGATGTTGAGCGGCAGCAGGCAAGCTTGAATACCCAGGGCATCTATGCTGGTGGAGGGGTCTGC ATTAACTGTCAGCACAACACAGCTGGAGTAAACTGTGAACAGTGTGCTAAGGGCTATTACCGCCCTTATGGGGTTCCAGTGGATGCCCCT GATGGCTGCATCCCCTGCAGCTGTGACCCTGAGCATGCGGATGGCTGTGAACAGGGTTCAGGCCGCTGTCACTGCAAGCCAAATTTCCAC GGAGACAACTGTGAGAAGTGTGCAATTGGATACTACAATTTCCCATTTTGCTTGAGAATTCCCATTTTTCCTGTTTCTACACCAAGTTCA GAAGATCCAGTAGCTGGAGATATAAAAGGGTGTGACTGTAATCTGGAAGGTGTTCTCCCTGAAATATGTGATGCCCACGGACGGTGCCTG TGCCGCCCTGGGGTTGAGGGCCCTCGATGTGATACCTGCCGCTCTGGTTTCTACTCATTCCCTATTTGCCAAGAGTATGTGAACATGCAG GATCCCGAGATGGACATGAAGTCAGTGACTGACCGGGCAGCCCGCACCCTGCTGTGGACTGAGCTCTTCCGAGGCCTGGGCATGACCCTG AGCTACCTGTTCCGGGAACCGGCCACCATCAACTACCCGTTCGAGAAGGGCCCGCTGAGCCCTCGCTTCCGTGGGGAGCATGCGCTGCGC CGGTACCCATCCGGGGAGGAGCGTTGCATTGCCTGCAAGCTCTGCGAGGCCATCTGCCCCGCCCAGGCCATCACCATCGAGGCTGAGCCA AGAGCTGATGGCAGCCGCCGGACCACCCGCTATGACATCGACATGACCAAGTGCATCTACTGCGGCTTCTGCCAGGAGGCCTGTCCCGTG GATGCCATCGTCGAGGGCCCCAACTTTGAGTTCTCCACGGAGACCCATGAGGAGCTGCTGTACAACAAGGAGAAGTTGCTCAACAACGGG GACAAGTGGGAGGCCGAGATCGCCGCCAACATCCAGGCTGACTACTTGTATCGGTGACGCCCCACCGGCCCGCAGCCCCTGCTGCCCAAT >In-frame_ENST00000399516_ENST00000313468_TCGA-BR-8297-01A_LAMA3_chr18_21364121_+_NDUFS8_chr11_67800390_length(amino acids)=708AA_start in transcript=0_stop in transcript=2126 MAAAARPRGRALGPVLPPTPLLLLVLRVLPACGATARDPGAAAGLSLHPTYFNLAEAARIWATATCGERGPGEGRPQPELYCKLVGGPTA PGSGHTIQGQFCDYCNSEDPRKAHPVTNAIDGSERWWQSPPLSSGTQYNRVNLTLDLGQLFHVAYILIKFANSPRPDLWVLERSVDFGST YSPWQYFAHSKVDCLKEFGREANMAVTRDDDVLCVTEYSRIVPLENGEVVVSLINGRPGAKNFTFSHTLREFTKATNIRLRFLRTNTLLG HLISKAQRDPTVTRRYYYSIKDISIGGQCVCNGHAEVCNINNPEKLFRCECQHHTCGETCDRCCTGYNQRRWRPAAWEQSHECEACNCHG HASNCYYDPDVERQQASLNTQGIYAGGGVCINCQHNTAGVNCEQCAKGYYRPYGVPVDAPDGCIPCSCDPEHADGCEQGSGRCHCKPNFH GDNCEKCAIGYYNFPFCLRIPIFPVSTPSSEDPVAGDIKGCDCNLEGVLPEICDAHGRCLCRPGVEGPRCDTCRSGFYSFPICQEYVNMQ DPEMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAICPAQAITIEAEP -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for LAMA3-NDUFS8 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
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 |
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Related Drugs for LAMA3-NDUFS8 |
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 |
Tgene | NDUFS8 | O00217 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for LAMA3-NDUFS8 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | LAMA3 | C1328355 | Laryngoonychocutaneous syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | LAMA3 | C0079683 | Herlitz Disease | 4 | CTD_human;GENOMICS_ENGLAND |
Hgene | LAMA3 | C0079301 | Junctional Epidermolysis Bullosa | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | LAMA3 | C0268374 | Adult junctional epidermolysis bullosa (disorder) | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | LAMA3 | C0027339 | Nail Diseases | 1 | CTD_human |
Hgene | LAMA3 | C0037299 | Skin Ulcer | 1 | CTD_human |
Hgene | LAMA3 | C0079297 | Epidermolysis Bullosa Progressiva | 1 | CTD_human |
Hgene | LAMA3 | C0399367 | Amelogenesis imperfecta local hypoplastic form | 1 | GENOMICS_ENGLAND |
Tgene | NDUFS8 | C0023264 | Leigh Disease | 10 | CLINGEN;GENOMICS_ENGLAND |
Tgene | NDUFS8 | C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | 10 | CLINGEN;GENOMICS_ENGLAND |
Tgene | NDUFS8 | C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | 9 | CLINGEN |
Tgene | NDUFS8 | C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | 9 | CLINGEN |
Tgene | NDUFS8 | C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | 9 | CLINGEN |
Tgene | NDUFS8 | C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | 9 | CLINGEN |
Tgene | NDUFS8 | C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | 9 | CLINGEN |
Tgene | NDUFS8 | C4748737 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 3 | GENOMICS_ENGLAND;UNIPROT |
Tgene | NDUFS8 | C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | 2 | GENOMICS_ENGLAND;ORPHANET |
Tgene | NDUFS8 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | NDUFS8 | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |
Tgene | NDUFS8 | C0751651 | Mitochondrial Diseases | 1 | GENOMICS_ENGLAND |