|
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:SHANK1-MTHFD1L (FusionGDB2 ID:81545) |
Fusion Gene Summary for SHANK1-MTHFD1L |
Fusion gene summary |
Fusion gene information | Fusion gene name: SHANK1-MTHFD1L | Fusion gene ID: 81545 | Hgene | Tgene | Gene symbol | SHANK1 | MTHFD1L | Gene ID | 50944 | 25902 |
Gene name | SH3 and multiple ankyrin repeat domains 1 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like | |
Synonyms | SPANK-1|SSTRIP|synamon | FTHFSDC1|MTC1THFS|dJ292B18.2 | |
Cytomap | 19q13.33 | 6q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | SH3 and multiple ankyrin repeat domains protein 1SSTR-interacting proteinsomatostatin receptor-interacting protein | monofunctional C1-tetrahydrofolate synthase, mitochondrial10-formyl-THF synthetaseformyltetrahydrofolate synthetase domain containing 1 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q6UB35 | |
Ensembl transtripts involved in fusion gene | ENST00000293441, ENST00000359082, ENST00000391813, ENST00000391814, ENST00000483981, | ENST00000478643, ENST00000367307, ENST00000367321, | |
Fusion gene scores | * DoF score | 6 X 5 X 3=90 | 14 X 17 X 13=3094 |
# samples | 5 | 27 | |
** MAII score | log2(5/90*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/3094*10)=-3.51844188439821 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SHANK1 [Title/Abstract] AND MTHFD1L [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | SHANK1(51175275)-MTHFD1L(151330955), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | SHANK1-MTHFD1L seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. SHANK1-MTHFD1L seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. SHANK1-MTHFD1L seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | MTHFD1L | GO:0006760 | folic acid-containing compound metabolic process | 12937168 |
Tgene | MTHFD1L | GO:0009257 | 10-formyltetrahydrofolate biosynthetic process | 12937168 |
Tgene | MTHFD1L | GO:0015942 | formate metabolic process | 16171773 |
Fusion gene breakpoints across SHANK1 (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 MTHFD1L (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 | BRCA | TCGA-A8-A08I-01A | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
Top |
Fusion Gene ORF analysis for SHANK1-MTHFD1L |
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-3UTR | ENST00000293441 | ENST00000478643 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
5CDS-3UTR | ENST00000359082 | ENST00000478643 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
5CDS-3UTR | ENST00000391813 | ENST00000478643 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
5CDS-3UTR | ENST00000391814 | ENST00000478643 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
5CDS-intron | ENST00000293441 | ENST00000367307 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
5CDS-intron | ENST00000359082 | ENST00000367307 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
5CDS-intron | ENST00000391813 | ENST00000367307 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
5CDS-intron | ENST00000391814 | ENST00000367307 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
Frame-shift | ENST00000391814 | ENST00000367321 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
In-frame | ENST00000293441 | ENST00000367321 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
In-frame | ENST00000359082 | ENST00000367321 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
In-frame | ENST00000391813 | ENST00000367321 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
intron-3CDS | ENST00000483981 | ENST00000367321 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
intron-3UTR | ENST00000483981 | ENST00000478643 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
intron-intron | ENST00000483981 | ENST00000367307 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + |
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) |
ENST00000391813 | SHANK1 | chr19 | 51175275 | - | ENST00000367321 | MTHFD1L | chr6 | 151330955 | + | 2040 | 835 | 0 | 1646 | 548 |
ENST00000293441 | SHANK1 | chr19 | 51175275 | - | ENST00000367321 | MTHFD1L | chr6 | 151330955 | + | 3898 | 2693 | 19 | 3504 | 1161 |
ENST00000359082 | SHANK1 | chr19 | 51175275 | - | ENST00000367321 | MTHFD1L | chr6 | 151330955 | + | 3852 | 2647 | 0 | 3458 | 1152 |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000391813 | ENST00000367321 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + | 0.00156351 | 0.9984365 |
ENST00000293441 | ENST00000367321 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + | 0.002340109 | 0.9976599 |
ENST00000359082 | ENST00000367321 | SHANK1 | chr19 | 51175275 | - | MTHFD1L | chr6 | 151330955 | + | 0.002524868 | 0.9974751 |
Top |
Fusion Genomic Features for SHANK1-MTHFD1L |
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) |
SHANK1 | chr19 | 51175274 | - | MTHFD1L | chr6 | 151330954 | + | 9.27E-06 | 0.9999907 |
SHANK1 | chr19 | 51175274 | - | MTHFD1L | chr6 | 151330954 | + | 9.27E-06 | 0.9999907 |
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. |
Top |
Fusion Protein Features for SHANK1-MTHFD1L |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:51175275/chr6:151330955) - 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 |
. | MTHFD1L |
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: May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2. {ECO:0000250, ECO:0000269|PubMed:16171773}. |
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 | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 554_613 | 891 | 2162.0 | Domain | SH3 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 663_757 | 891 | 2162.0 | Domain | PDZ |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 554_613 | 882 | 2153.0 | Domain | SH3 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 663_757 | 882 | 2153.0 | Domain | PDZ |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 212_245 | 891 | 2162.0 | Repeat | Note=ANK 1 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 246_278 | 891 | 2162.0 | Repeat | Note=ANK 2 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 279_312 | 891 | 2162.0 | Repeat | Note=ANK 3 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 313_345 | 891 | 2162.0 | Repeat | Note=ANK 4 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 346_378 | 891 | 2162.0 | Repeat | Note=ANK 5 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 379_395 | 891 | 2162.0 | Repeat | Note=ANK 6 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 212_245 | 882 | 2153.0 | Repeat | Note=ANK 1 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 246_278 | 882 | 2153.0 | Repeat | Note=ANK 2 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 279_312 | 882 | 2153.0 | Repeat | Note=ANK 3 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 313_345 | 882 | 2153.0 | Repeat | Note=ANK 4 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 346_378 | 882 | 2153.0 | Repeat | Note=ANK 5 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 379_395 | 882 | 2153.0 | Repeat | Note=ANK 6 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 212_245 | 278 | 1549.0 | Repeat | Note=ANK 1 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 246_278 | 278 | 1549.0 | Repeat | Note=ANK 2 |
Tgene | MTHFD1L | chr19:51175275 | chr6:151330955 | ENST00000367307 | 0 | 8 | 34_42 | 0 | 276.0 | Compositional bias | Note=Poly-Gly | |
Tgene | MTHFD1L | chr19:51175275 | chr6:151330955 | ENST00000367307 | 0 | 8 | 423_430 | 0 | 276.0 | Nucleotide binding | ATP | |
Tgene | MTHFD1L | chr19:51175275 | chr6:151330955 | ENST00000367307 | 0 | 8 | 31_348 | 0 | 276.0 | Region | Note=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase | |
Tgene | MTHFD1L | chr19:51175275 | chr6:151330955 | ENST00000367307 | 0 | 8 | 349_978 | 0 | 276.0 | Region | Note=Formyltetrahydrofolate synthetase |
- 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 | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 1002_1007 | 891 | 2162.0 | Compositional bias | Note=Poly-His |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 1014_1019 | 891 | 2162.0 | Compositional bias | Note=Poly-His |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 1189_1195 | 891 | 2162.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 1709_1717 | 891 | 2162.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 1844_1854 | 891 | 2162.0 | Compositional bias | Note=Poly-Pro |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 1896_1902 | 891 | 2162.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 1970_1979 | 891 | 2162.0 | Compositional bias | Note=Poly-Ser |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 1002_1007 | 882 | 2153.0 | Compositional bias | Note=Poly-His |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 1014_1019 | 882 | 2153.0 | Compositional bias | Note=Poly-His |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 1189_1195 | 882 | 2153.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 1709_1717 | 882 | 2153.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 1844_1854 | 882 | 2153.0 | Compositional bias | Note=Poly-Pro |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 1896_1902 | 882 | 2153.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 1970_1979 | 882 | 2153.0 | Compositional bias | Note=Poly-Ser |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 1002_1007 | 278 | 1549.0 | Compositional bias | Note=Poly-His |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 1014_1019 | 278 | 1549.0 | Compositional bias | Note=Poly-His |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 1189_1195 | 278 | 1549.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 1709_1717 | 278 | 1549.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 1844_1854 | 278 | 1549.0 | Compositional bias | Note=Poly-Pro |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 1896_1902 | 278 | 1549.0 | Compositional bias | Note=Poly-Gly |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 1970_1979 | 278 | 1549.0 | Compositional bias | Note=Poly-Ser |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000293441 | - | 21 | 23 | 2098_2161 | 891 | 2162.0 | Domain | SAM |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000359082 | - | 20 | 22 | 2098_2161 | 882 | 2153.0 | Domain | SAM |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 2098_2161 | 278 | 1549.0 | Domain | SAM |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 554_613 | 278 | 1549.0 | Domain | SH3 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 663_757 | 278 | 1549.0 | Domain | PDZ |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 279_312 | 278 | 1549.0 | Repeat | Note=ANK 3 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 313_345 | 278 | 1549.0 | Repeat | Note=ANK 4 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 346_378 | 278 | 1549.0 | Repeat | Note=ANK 5 |
Hgene | SHANK1 | chr19:51175275 | chr6:151330955 | ENST00000391813 | - | 7 | 9 | 379_395 | 278 | 1549.0 | Repeat | Note=ANK 6 |
Tgene | MTHFD1L | chr19:51175275 | chr6:151330955 | ENST00000367321 | 19 | 28 | 34_42 | 708 | 932.6666666666666 | Compositional bias | Note=Poly-Gly | |
Tgene | MTHFD1L | chr19:51175275 | chr6:151330955 | ENST00000367321 | 19 | 28 | 423_430 | 708 | 932.6666666666666 | Nucleotide binding | ATP | |
Tgene | MTHFD1L | chr19:51175275 | chr6:151330955 | ENST00000367321 | 19 | 28 | 31_348 | 708 | 932.6666666666666 | Region | Note=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase | |
Tgene | MTHFD1L | chr19:51175275 | chr6:151330955 | ENST00000367321 | 19 | 28 | 349_978 | 708 | 932.6666666666666 | Region | Note=Formyltetrahydrofolate synthetase |
Top |
Fusion Gene Sequence for SHANK1-MTHFD1L |
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. |
>81545_81545_1_SHANK1-MTHFD1L_SHANK1_chr19_51175275_ENST00000293441_MTHFD1L_chr6_151330955_ENST00000367321_length(transcript)=3898nt_BP=2693nt GTCGCCCCGTGGCCCCACAATGACCCACAGCCCCGCGACAAGCGAGGACGAGGAACGCCACAGTGCCAGCGAGTGTCCCGAGGGGGGCTC AGAGTCCGACAGCTCCCCAGACGGGCCAGGTCGAGGCCCCCGGGGGACCCGGGGCCAGGGCAGTGGGGCACCTGGTAGCCTGGCCTCTGT TAGAGGCCTCCAGGGCCGCTCAATGTCCGTCCCAGACGACGCCCACTTCAGCATGATGGTCTTCAGGATTGGCATCCCGGACCTGCACCA GACAAAATGCCTTCGCTTCAACCCCGATGCCACCATCTGGACGGCCAAGCAGCAGGTGCTCTGTGCCCTGAGCGAGAGCCTGCAGGATGT GCTCAACTATGGCCTGTTCCAACCGGCCACCTCCGGCCGCGATGCCAACTTCCTGGAGGAGGAGAGGCTGCTGCGGGAGTACCCCCAGTC CTTTGAGAAGGGGGTCCCCTACCTGGAGTTCCGATACAAGACCCGAGTTTACAAACAGACCAACCTGGATGAGAAGCAGCTGGCCAAGTT GCACACGAAGACGGGGTTGAAGAAGTTCCTGGAGTATGTGCAGCTCGGGACATCTGACAAGGTGGCGCGGCTGCTGGACAAGGGGCTGGA CCCCAATTACCATGACTCGGATTCGGGAGAGACCCCCTTGACACTGGCGGCCCAGACCGAAGGCTCTGTAGAGGTGATTCGAACCCTGTG CCTGGGCGGGGCCCACATTGACTTCCGGGCCCGGGATGGCATGACCGCACTGCATAAGGCCGCATGCGCCCGACACTGCCTGGCACTCAC GGCGCTCCTGGACCTTGGGGGTTCCCCCAACTACAAGGACCGTCGGGGGCTGACCCCTCTGTTCCACACGGCCATGGTGGGTGGTGACCC CCGATGCTGCGAGCTGCTCCTGTTCAACAGGGCCCAGCTGGGCATAGCTGATGAGAACGGCTGGCAGGAAATCCACCAGGCCTGCCAGCG GGGTCACTCTCAGCACCTGGAGCATCTGCTTTTCTACGGGGCTGAGCCTGGAGCCCAGAACGCCTCGGGGAACACGGCTCTGCACATCTG CGCCCTCTACAACAAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTT CCAGGTGGCAGTGATTGCTGGGAATTTTGAGCTGGGGGAGCTGATCCGAAACCACCGAGAACAGGATGTGGTGCCCTTCCAGGAGTCCCC CAAGTACGCGGCCCGGCGACGGGGGCCCCCAGGCACAGGGCTGACGGTGCCCCCGGCGCTGCTGCGGGCCAACAGTGACACCAGCATGGC GCTGCCCGACTGGATGGTGTTCTCCGCCCCGGGGGCCGCGTCCTCTGGGGCCCCTGGCCCTACCTCAGGGTCCCAGGGCCAGTCGCAGCC CTCGGCCCCCACCACCAAGCTCAGCAGCGGGACCCTCCGAAGTGCCAGCAGCCCCCGGGGTGCCAGGGCCCGCTCTCCATCCCGAGGGAG GCACCCTGAGGACGCCAAGAGGCAGCCCCGAGGCCGGCCCAGCTCCAGCGGGACACCCCGGGAAGGGCCAGCCGGGGGCACGGGGGGCTC AGGGGGCCCCGGGGGCTCCCTGGGCAGCCGCGGGAGGCGGAGGAAGCTCTACTCAGCGGTACCCGGACGCTCCTTCATGGCTGTGAAGTC CTACCAGGCCCAAGCCGAGGGGGAGATCTCCCTGAGCAAGGGCGAGAAGATCAAAGTACTTAGCATCGGGGAAGGAGGCTTCTGGGAAGG CCAGGTCAAAGGTCGTGTTGGCTGGTTCCCCTCTGACTGCCTGGAAGAAGTGGCGAATCGCTCTCAGGAGAGCAAGCAAGAAAGCCGCAG TGACAAGGCAAAGAGACTCTTCCGGCATTATACCGTGGGCTCCTACGACAGCTTTGATGCCCCAAGCTTAATGGATGGGATTGGCCCAGG GAGCGATTACATCATTAAGGAGAAGACAGTCTTGCTGCAGAAGAAGGACAGTGAGGGGTTTGGGTTCGTGCTCCGGGGGGCCAAGGCGCA GACCCCCATCGAGGAGTTCACCCCCACCCCGGCCTTCCCGGCGCTGCAGTACCTGGAGTCGGTGGACGAGGGTGGCGTGGCATGGCGAGC TGGACTGCGAATGGGAGACTTCCTCATCGAGGTGAACGGGCAGAATGTGGTGAAGGTCGGCCACCGACAGGTGGTGAACATGATCCGCCA AGGGGGCAACACGCTGATGGTGAAGGTGGTGATGGTCACCAGGCACCCGGACATGGATGAGGCAGTGCACAAGAAAGCACCCCAGCAGGC CAAGCGGCTGCCGCCCCCAACCATCTCCCTGCGTTCCAAATCTATGACCTCAGAGCTGGAGGAGATGGAGTACGAGCAGCAGCCGGCGCC GGTGCCCAGCATGGAGAAAAAGCGGACCGTGTATCAGATGGCTCTCAACAAACTGGACGAAATCCTGGCCGCAGCTCAACAGACCATCAG TGCAAGCGAAAGCCCTGGTCCCGGTGGCCTCGCGTCCCTGGGCAAACACCGACCCAAAGGTTTCTTTGCCACTGAGTCGAGCTTCGATCC CCACCACCGTGCCCAGCCAAGTTACGAGCGTCCTTCTTTCCTGCCTCCAGGACCTGGGTTGATGCTCCGGCAAAAATCTATCGTGACCGA AGCTGGCTTTGGTGCTGACATCGGAATGGAGAAATTCTTCAACATCAAGTGCCGAGCTTCCGGCTTGGTGCCCAACGTGGTTGTGTTAGT GGCAACGGTGCGAGCTCTGAAGATGCATGGAGGCGGGCCAAGTGTAACGGCTGGTGTTCCTCTTAAGAAAGAATATACAGAGGAGAACAT CCAGCTGGTGGCAGACGGCTGCTGTAACCTCCAGAAGCAAATTCAGATCACTCAGCTCTTTGGGGTTCCCGTTGTGGTGGCTCTGAATGT CTTCAAGACCGACACCCGCGCTGAGATTGACTTGGTGTGTGAGCTTGCAAAGCGGGCTGGTGCCTTTGATGCAGTCCCCTGCTATCACTG GTCCGTTGGTGGAAAAGGATCGGTGGACTTGGCTCGGGCTGTGAGAGAGGCTGCGAGTAAAAGAAGCCGATTCCAGTTCCTGTATGATGT TCAGGTTCCAATTGTGGACAAGATAAGGACCATTGCTCAGGCTGTCTATGGAGCCAAAGATATTGAACTCTCTCCTGAGGCACAAGCCAA AATAGATCGTTACACTCAACAGGGTTTTGGAAATTTGCCCATCTGCATGGCAAAGACCCACCTTTCTCTATCTCACCAACCTGACAAAAA AGGTGTGCCAAGGGACTTCATCTTACCTATCAGTGACGTCCGGGCCAGCATAGGCGCTGGGTTCATTTACCCTTTGGTCGGAACGATGAG CACCATGCCAGGACTGCCCACCCGGCCCTGCTTTTATGACATAGATCTTGATACCGAAACAGAACAAGTTAAAGGCTTGTTCTAAGTGGA CAAGGCTCTCACAGGACCCGATGCAGACTCCTGAAACAGACTACTCTTTGCCTTTTTGCTGCAGTTGGAGAAGAAACTGAATTTGAAAAA TGTCTGTTATGCAATGCTGGAGACATGGTGAAATAGGCCAAAGATTTCTTCTTCGTTCAAGATGAATTCTGTTCACAGTGGAGTATGGTG TTCGGCAAAAGGACCTCCACCAAGACTGAAAGAAACTAATTTATTTCTGTTTCTGTGGAGTTTCCATTATTTCTACTGCTTACACTTTAG AATGTTTATTTTATGGGGACTAAGGGATTAGGAGTGTGAACTAAAAGGTAACATTTTCCACTCTCAAGTTTTCTACTTTGTCTTTGAACT >81545_81545_1_SHANK1-MTHFD1L_SHANK1_chr19_51175275_ENST00000293441_MTHFD1L_chr6_151330955_ENST00000367321_length(amino acids)=1161AA_BP=891 MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKE TCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARRRGPPGTGLTVPPALLRANSDTSMALPDWMV FSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGS LGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRVGWFPSDCLEEVANRSQESKQESRSDKAKRL FRHYTVGSYDSFDAPSLMDGIGPGSDYIIKEKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGD FLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSELEEMEYEQQPAPVPSMEK KRTVYQMALNKLDEILAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIVTEAGFGAD IGMEKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTR AEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQ -------------------------------------------------------------- >81545_81545_2_SHANK1-MTHFD1L_SHANK1_chr19_51175275_ENST00000359082_MTHFD1L_chr6_151330955_ENST00000367321_length(transcript)=3852nt_BP=2647nt ATGACCCACAGCCCCGCGACAAGCGAGGACGAGGAACGCCACAGTGCCAGCGAGTGTCCCGAGGGGGGCTCAGAGTCCGACAGCTCCCCA GACGGGCCAGGTCGAGGCCCCCGGGGGACCCGGGGCCAGGGCAGTGGGGCACCTGGTAGCCTGGCCTCTGTTAGAGGCCTCCAGGGCCGC TCAATGTCCGTCCCAGACGACGCCCACTTCAGCATGATGGTCTTCAGGATTGGCATCCCGGACCTGCACCAGACAAAATGCCTTCGCTTC AACCCCGATGCCACCATCTGGACGGCCAAGCAGCAGGTGCTCTGTGCCCTGAGCGAGAGCCTGCAGGATGTGCTCAACTATGGCCTGTTC CAACCGGCCACCTCCGGCCGCGATGCCAACTTCCTGGAGGAGGAGAGGCTGCTGCGGGAGTACCCCCAGTCCTTTGAGAAGGGGGTCCCC TACCTGGAGTTCCGATACAAGACCCGAGTTTACAAACAGACCAACCTGGATGAGAAGCAGCTGGCCAAGTTGCACACGAAGACGGGGTTG AAGAAGTTCCTGGAGTATGTGCAGCTCGGGACATCTGACAAGGTGGCGCGGCTGCTGGACAAGGGGCTGGACCCCAATTACCATGACTCG GATTCGGGAGAGACCCCCTTGACACTGGCGGCCCAGACCGAAGGCTCTGTAGAGGTGATTCGAACCCTGTGCCTGGGCGGGGCCCACATT GACTTCCGGGCCCGGGATGGCATGACCGCACTGCATAAGGCCGCATGCGCCCGACACTGCCTGGCACTCACGGCGCTCCTGGACCTTGGG GGTTCCCCCAACTACAAGGACCGTCGGGGGCTGACCCCTCTGTTCCACACGGCCATGGTGGGTGGTGACCCCCGATGCTGCGAGCTGCTC CTGTTCAACAGGGCCCAGCTGGGCATAGCTGATGAGAACGGCTGGCAGGAAATCCACCAGGCCTGCCAGCGGGGTCACTCTCAGCACCTG GAGCATCTGCTTTTCTACGGGGCTGAGCCTGGAGCCCAGAACGCCTCGGGGAACACGGCTCTGCACATCTGCGCCCTCTACAACAAGGAG ACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTGGCAGTGATTGCT GGGAATTTTGAGCTGGGGGAGCTGATCCGAAACCACCGAGAACAGGATGTGGTGCCCTTCCAGGAGTCCCCCAAGTACGCGGCCCGGCGA CGGGGGCCCCCAGGCACAGGGCTGACGGTGCCCCCGGCGCTGCTGCGGGCCAACAGTGACACCAGCATGGCGCTGCCCGACTGGATGGTG TTCTCCGCCCCGGGGGCCGCGTCCTCTGGGGCCCCTGGCCCTACCTCAGGGTCCCAGGGCCAGTCGCAGCCCTCGGCCCCCACCACCAAG CTCAGCAGCGGGACCCTCCGAAGTGCCAGCAGCCCCCGGGGTGCCAGGGCCCGCTCTCCATCCCGAGGGAGGCACCCTGAGGACGCCAAG AGGCAGCCCCGAGGCCGGCCCAGCTCCAGCGGGACACCCCGGGAAGGGCCAGCCGGGGGCACGGGGGGCTCAGGGGGCCCCGGGGGCTCC CTGGGCAGCCGCGGGAGGCGGAGGAAGCTCTACTCAGCGGTACCCGGACGCTCCTTCATGGCTGTGAAGTCCTACCAGGCCCAAGCCGAG GGGGAGATCTCCCTGAGCAAGGGCGAGAAGATCAAAGTACTTAGCATCGGGGAAGGAGGCTTCTGGGAAGGCCAGGTCAAAGGTCGTGTT GGCTGGTTCCCCTCTGACTGCCTGGAAGAAGTGGCGAATCGCTCTCAGGAGAGCAAGCAAGAAAGCCGCAGTGACAAGGCAAAGAGACTC TTCCGGCATTATACCGTGGGCTCCTACGACAGCTTTGATGCCCCAAGCGATTACATCATTAAGGAGAAGACAGTCTTGCTGCAGAAGAAG GACAGTGAGGGGTTTGGGTTCGTGCTCCGGGGGGCCAAGGCGCAGACCCCCATCGAGGAGTTCACCCCCACCCCGGCCTTCCCGGCGCTG CAGTACCTGGAGTCGGTGGACGAGGGTGGCGTGGCATGGCGAGCTGGACTGCGAATGGGAGACTTCCTCATCGAGGTGAACGGGCAGAAT GTGGTGAAGGTCGGCCACCGACAGGTGGTGAACATGATCCGCCAAGGGGGCAACACGCTGATGGTGAAGGTGGTGATGGTCACCAGGCAC CCGGACATGGATGAGGCAGTGCACAAGAAAGCACCCCAGCAGGCCAAGCGGCTGCCGCCCCCAACCATCTCCCTGCGTTCCAAATCTATG ACCTCAGAGCTGGAGGAGATGGAGTACGAGCAGCAGCCGGCGCCGGTGCCCAGCATGGAGAAAAAGCGGACCGTGTATCAGATGGCTCTC AACAAACTGGACGAAATCCTGGCCGCAGCTCAACAGACCATCAGTGCAAGCGAAAGCCCTGGTCCCGGTGGCCTCGCGTCCCTGGGCAAA CACCGACCCAAAGGTTTCTTTGCCACTGAGTCGAGCTTCGATCCCCACCACCGTGCCCAGCCAAGTTACGAGCGTCCTTCTTTCCTGCCT CCAGGACCTGGGTTGATGCTCCGGCAAAAATCTATCGTGACCGAAGCTGGCTTTGGTGCTGACATCGGAATGGAGAAATTCTTCAACATC AAGTGCCGAGCTTCCGGCTTGGTGCCCAACGTGGTTGTGTTAGTGGCAACGGTGCGAGCTCTGAAGATGCATGGAGGCGGGCCAAGTGTA ACGGCTGGTGTTCCTCTTAAGAAAGAATATACAGAGGAGAACATCCAGCTGGTGGCAGACGGCTGCTGTAACCTCCAGAAGCAAATTCAG ATCACTCAGCTCTTTGGGGTTCCCGTTGTGGTGGCTCTGAATGTCTTCAAGACCGACACCCGCGCTGAGATTGACTTGGTGTGTGAGCTT GCAAAGCGGGCTGGTGCCTTTGATGCAGTCCCCTGCTATCACTGGTCCGTTGGTGGAAAAGGATCGGTGGACTTGGCTCGGGCTGTGAGA GAGGCTGCGAGTAAAAGAAGCCGATTCCAGTTCCTGTATGATGTTCAGGTTCCAATTGTGGACAAGATAAGGACCATTGCTCAGGCTGTC TATGGAGCCAAAGATATTGAACTCTCTCCTGAGGCACAAGCCAAAATAGATCGTTACACTCAACAGGGTTTTGGAAATTTGCCCATCTGC ATGGCAAAGACCCACCTTTCTCTATCTCACCAACCTGACAAAAAAGGTGTGCCAAGGGACTTCATCTTACCTATCAGTGACGTCCGGGCC AGCATAGGCGCTGGGTTCATTTACCCTTTGGTCGGAACGATGAGCACCATGCCAGGACTGCCCACCCGGCCCTGCTTTTATGACATAGAT CTTGATACCGAAACAGAACAAGTTAAAGGCTTGTTCTAAGTGGACAAGGCTCTCACAGGACCCGATGCAGACTCCTGAAACAGACTACTC TTTGCCTTTTTGCTGCAGTTGGAGAAGAAACTGAATTTGAAAAATGTCTGTTATGCAATGCTGGAGACATGGTGAAATAGGCCAAAGATT TCTTCTTCGTTCAAGATGAATTCTGTTCACAGTGGAGTATGGTGTTCGGCAAAAGGACCTCCACCAAGACTGAAAGAAACTAATTTATTT CTGTTTCTGTGGAGTTTCCATTATTTCTACTGCTTACACTTTAGAATGTTTATTTTATGGGGACTAAGGGATTAGGAGTGTGAACTAAAA >81545_81545_2_SHANK1-MTHFD1L_SHANK1_chr19_51175275_ENST00000359082_MTHFD1L_chr6_151330955_ENST00000367321_length(amino acids)=1152AA_BP=882 MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKE TCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARRRGPPGTGLTVPPALLRANSDTSMALPDWMV FSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGS LGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRVGWFPSDCLEEVANRSQESKQESRSDKAKRL FRHYTVGSYDSFDAPSDYIIKEKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGDFLIEVNGQN VVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSELEEMEYEQQPAPVPSMEKKRTVYQMAL NKLDEILAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIVTEAGFGADIGMEKFFNI KCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTRAEIDLVCEL AKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQQGFGNLPIC -------------------------------------------------------------- >81545_81545_3_SHANK1-MTHFD1L_SHANK1_chr19_51175275_ENST00000391813_MTHFD1L_chr6_151330955_ENST00000367321_length(transcript)=2040nt_BP=835nt ATGCAATTAATGGCCCTGGAGCAGAGGTTTGGGTCTGGGTTGCCGGGTGGGGGACAGCCTCTGTGTCTCATGATGTCTTCTCCACTCCCC CCACCACCCCCCCATTTCTCCTGCCTCCCTGCCAGCGATTACATCATTAAGGAGAAGACAGTCTTGCTGCAGAAGAAGGACAGTGAGGGG TTTGGGTTCGTGCTCCGGGGGGCCAAGGCGCAGACCCCCATCGAGGAGTTCACCCCCACCCCGGCCTTCCCGGCGCTGCAGTACCTGGAG TCGGTGGACGAGGGTGGCGTGGCATGGCGAGCTGGACTGCGAATGGGAGACTTCCTCATCGAGGTGAACGGGCAGAATGTGGTGAAGGTC GGCCACCGACAGGTGGTGAACATGATCCGCCAAGGGGGCAACACGCTGATGGTGAAGGTGGTGATGGTCACCAGGCACCCGGACATGGAT GAGGCAGTGCACAAGAAAGCACCCCAGCAGGCCAAGCGGCTGCCGCCCCCAACCATCTCCCTGCGTTCCAAATCTATGACCTCAGAGCTG GAGGAGATGGAGTACGAGCAGCAGCCGGCGCCGGTGCCCAGCATGGAGAAAAAGCGGACCGTGTATCAGATGGCTCTCAACAAACTGGAC GAAATCCTGGCCGCAGCTCAACAGACCATCAGTGCAAGCGAAAGCCCTGGTCCCGGTGGCCTCGCGTCCCTGGGCAAACACCGACCCAAA GGTTTCTTTGCCACTGAGTCGAGCTTCGATCCCCACCACCGTGCCCAGCCAAGTTACGAGCGTCCTTCTTTCCTGCCTCCAGGACCTGGG TTGATGCTCCGGCAAAAATCTATCGTGACCGAAGCTGGCTTTGGTGCTGACATCGGAATGGAGAAATTCTTCAACATCAAGTGCCGAGCT TCCGGCTTGGTGCCCAACGTGGTTGTGTTAGTGGCAACGGTGCGAGCTCTGAAGATGCATGGAGGCGGGCCAAGTGTAACGGCTGGTGTT CCTCTTAAGAAAGAATATACAGAGGAGAACATCCAGCTGGTGGCAGACGGCTGCTGTAACCTCCAGAAGCAAATTCAGATCACTCAGCTC TTTGGGGTTCCCGTTGTGGTGGCTCTGAATGTCTTCAAGACCGACACCCGCGCTGAGATTGACTTGGTGTGTGAGCTTGCAAAGCGGGCT GGTGCCTTTGATGCAGTCCCCTGCTATCACTGGTCCGTTGGTGGAAAAGGATCGGTGGACTTGGCTCGGGCTGTGAGAGAGGCTGCGAGT AAAAGAAGCCGATTCCAGTTCCTGTATGATGTTCAGGTTCCAATTGTGGACAAGATAAGGACCATTGCTCAGGCTGTCTATGGAGCCAAA GATATTGAACTCTCTCCTGAGGCACAAGCCAAAATAGATCGTTACACTCAACAGGGTTTTGGAAATTTGCCCATCTGCATGGCAAAGACC CACCTTTCTCTATCTCACCAACCTGACAAAAAAGGTGTGCCAAGGGACTTCATCTTACCTATCAGTGACGTCCGGGCCAGCATAGGCGCT GGGTTCATTTACCCTTTGGTCGGAACGATGAGCACCATGCCAGGACTGCCCACCCGGCCCTGCTTTTATGACATAGATCTTGATACCGAA ACAGAACAAGTTAAAGGCTTGTTCTAAGTGGACAAGGCTCTCACAGGACCCGATGCAGACTCCTGAAACAGACTACTCTTTGCCTTTTTG CTGCAGTTGGAGAAGAAACTGAATTTGAAAAATGTCTGTTATGCAATGCTGGAGACATGGTGAAATAGGCCAAAGATTTCTTCTTCGTTC AAGATGAATTCTGTTCACAGTGGAGTATGGTGTTCGGCAAAAGGACCTCCACCAAGACTGAAAGAAACTAATTTATTTCTGTTTCTGTGG AGTTTCCATTATTTCTACTGCTTACACTTTAGAATGTTTATTTTATGGGGACTAAGGGATTAGGAGTGTGAACTAAAAGGTAACATTTTC >81545_81545_3_SHANK1-MTHFD1L_SHANK1_chr19_51175275_ENST00000391813_MTHFD1L_chr6_151330955_ENST00000367321_length(amino acids)=548AA_BP=278 MQLMALEQRFGSGLPGGGQPLCLMMSSPLPPPPPHFSCLPASDYIIKEKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLE SVDEGGVAWRAGLRMGDFLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSEL EEMEYEQQPAPVPSMEKKRTVYQMALNKLDEILAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPG LMLRQKSIVTEAGFGADIGMEKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQL FGVPVVVALNVFKTDTRAEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAK DIELSPEAQAKIDRYTQQGFGNLPICMAKTHLSLSHQPDKKGVPRDFILPISDVRASIGAGFIYPLVGTMSTMPGLPTRPCFYDIDLDTE -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for SHANK1-MTHFD1L |
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 |
Top |
Related Drugs for SHANK1-MTHFD1L |
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 SHANK1-MTHFD1L |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |