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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SHANK1-MTHFD1L (FusionGDB2 ID:80970)

Fusion Gene Summary for SHANK1-MTHFD1L

check button Fusion gene summary
Fusion gene informationFusion gene name: SHANK1-MTHFD1L
Fusion gene ID: 80970
HgeneTgene
Gene symbol

SHANK1

MTHFD1L

Gene ID

50944

25902

Gene nameSH3 and multiple ankyrin repeat domains 1methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
SynonymsSPANK-1|SSTRIP|synamonFTHFSDC1|MTC1THFS|dJ292B18.2
Cytomap

19q13.33

6q25.1

Type of geneprotein-codingprotein-coding
DescriptionSH3 and multiple ankyrin repeat domains protein 1SSTR-interacting proteinsomatostatin receptor-interacting proteinmonofunctional C1-tetrahydrofolate synthase, mitochondrial10-formyl-THF synthetaseformyltetrahydrofolate synthetase domain containing 1
Modification date2020031320200313
UniProtAcc.

Q6UB35

Ensembl transtripts involved in fusion geneENST00000391813, ENST00000293441, 
ENST00000391814, ENST00000359082, 
ENST00000483981, 		ENST00000367321, 
ENST00000367307, ENST00000478643, 
Fusion gene scores* DoF score6 X 5 X 3=9014 X 17 X 13=3094
# samples 527
** MAII scorelog2(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 breakpointSHANK1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMTHFD1L

GO:0006760

folic acid-containing compound metabolic process

12937168

TgeneMTHFD1L

GO:0009257

10-formyltetrahydrofolate biosynthetic process

12937168

TgeneMTHFD1L

GO:0015942

formate metabolic process

16171773


check buttonFusion 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.

check buttonFusion 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.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A8-A08I-01ASHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+


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Fusion Gene ORF analysis for SHANK1-MTHFD1L

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000391813ENST00000367321SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
5CDS-intronENST00000391813ENST00000367307SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
5CDS-3UTRENST00000391813ENST00000478643SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
In-frameENST00000293441ENST00000367321SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
5CDS-intronENST00000293441ENST00000367307SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
5CDS-3UTRENST00000293441ENST00000478643SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
Frame-shiftENST00000391814ENST00000367321SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
5CDS-intronENST00000391814ENST00000367307SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
5CDS-3UTRENST00000391814ENST00000478643SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
In-frameENST00000359082ENST00000367321SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
5CDS-intronENST00000359082ENST00000367307SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
5CDS-3UTRENST00000359082ENST00000478643SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
intron-3CDSENST00000483981ENST00000367321SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
intron-intronENST00000483981ENST00000367307SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+
intron-3UTRENST00000483981ENST00000478643SHANK1chr19

51175275

-MTHFD1Lchr6

151330955

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000391813SHANK1chr1951175275-ENST00000367321MTHFD1Lchr6151330955+204083501646548
ENST00000293441SHANK1chr1951175275-ENST00000367321MTHFD1Lchr6151330955+389826931935041161
ENST00000359082SHANK1chr1951175275-ENST00000367321MTHFD1Lchr6151330955+38522647034581152

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000391813ENST00000367321SHANK1chr1951175275-MTHFD1Lchr6151330955+0.001563510.9984365
ENST00000293441ENST00000367321SHANK1chr1951175275-MTHFD1Lchr6151330955+0.0023401090.9976599
ENST00000359082ENST00000367321SHANK1chr1951175275-MTHFD1Lchr6151330955+0.0025248680.9974751

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Fusion Genomic Features for SHANK1-MTHFD1L


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
SHANK1chr1951175274-MTHFD1Lchr6151330954+9.27E-060.9999907
SHANK1chr1951175274-MTHFD1Lchr6151330954+9.27E-060.9999907

check buttonDistribution 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.

check buttonDistribution 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 SHANK1-MTHFD1L


check button Go to

FGviewer for the breakpoints of 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MTHFD1L

Q6UB35

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-2123554_613891.33333333333342162.0DomainSH3
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-2123663_757891.33333333333342162.0DomainPDZ
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-2022554_613882.33333333333342153.0DomainSH3
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-2022663_757882.33333333333342153.0DomainPDZ
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-2123212_245891.33333333333342162.0RepeatNote=ANK 1
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-2123246_278891.33333333333342162.0RepeatNote=ANK 2
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-2123279_312891.33333333333342162.0RepeatNote=ANK 3
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-2123313_345891.33333333333342162.0RepeatNote=ANK 4
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-2123346_378891.33333333333342162.0RepeatNote=ANK 5
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-2123379_395891.33333333333342162.0RepeatNote=ANK 6
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-2022212_245882.33333333333342153.0RepeatNote=ANK 1
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-2022246_278882.33333333333342153.0RepeatNote=ANK 2
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-2022279_312882.33333333333342153.0RepeatNote=ANK 3
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-2022313_345882.33333333333342153.0RepeatNote=ANK 4
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-2022346_378882.33333333333342153.0RepeatNote=ANK 5
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-2022379_395882.33333333333342153.0RepeatNote=ANK 6
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-79212_245278.33333333333331549.0RepeatNote=ANK 1
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-79246_278278.33333333333331549.0RepeatNote=ANK 2
TgeneMTHFD1Lchr19:51175275chr6:151330955ENST000003673070834_420276.0Compositional biasNote=Poly-Gly
TgeneMTHFD1Lchr19:51175275chr6:151330955ENST0000036730708423_4300276.0Nucleotide bindingATP
TgeneMTHFD1Lchr19:51175275chr6:151330955ENST000003673070831_3480276.0RegionNote=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
TgeneMTHFD1Lchr19:51175275chr6:151330955ENST0000036730708349_9780276.0RegionNote=Formyltetrahydrofolate synthetase

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-21231002_1007891.33333333333342162.0Compositional biasNote=Poly-His
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-21231014_1019891.33333333333342162.0Compositional biasNote=Poly-His
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-21231189_1195891.33333333333342162.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-21231709_1717891.33333333333342162.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-21231844_1854891.33333333333342162.0Compositional biasNote=Poly-Pro
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-21231896_1902891.33333333333342162.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-21231970_1979891.33333333333342162.0Compositional biasNote=Poly-Ser
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-20221002_1007882.33333333333342153.0Compositional biasNote=Poly-His
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-20221014_1019882.33333333333342153.0Compositional biasNote=Poly-His
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-20221189_1195882.33333333333342153.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-20221709_1717882.33333333333342153.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-20221844_1854882.33333333333342153.0Compositional biasNote=Poly-Pro
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-20221896_1902882.33333333333342153.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-20221970_1979882.33333333333342153.0Compositional biasNote=Poly-Ser
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-791002_1007278.33333333333331549.0Compositional biasNote=Poly-His
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-791014_1019278.33333333333331549.0Compositional biasNote=Poly-His
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-791189_1195278.33333333333331549.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-791709_1717278.33333333333331549.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-791844_1854278.33333333333331549.0Compositional biasNote=Poly-Pro
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-791896_1902278.33333333333331549.0Compositional biasNote=Poly-Gly
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-791970_1979278.33333333333331549.0Compositional biasNote=Poly-Ser
HgeneSHANK1chr19:51175275chr6:151330955ENST00000293441-21232098_2161891.33333333333342162.0DomainSAM
HgeneSHANK1chr19:51175275chr6:151330955ENST00000359082-20222098_2161882.33333333333342153.0DomainSAM
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-792098_2161278.33333333333331549.0DomainSAM
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-79554_613278.33333333333331549.0DomainSH3
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-79663_757278.33333333333331549.0DomainPDZ
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-79279_312278.33333333333331549.0RepeatNote=ANK 3
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-79313_345278.33333333333331549.0RepeatNote=ANK 4
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-79346_378278.33333333333331549.0RepeatNote=ANK 5
HgeneSHANK1chr19:51175275chr6:151330955ENST00000391813-79379_395278.33333333333331549.0RepeatNote=ANK 6
TgeneMTHFD1Lchr19:51175275chr6:151330955ENST00000367321192834_42708.3333333333334932.6666666666666Compositional biasNote=Poly-Gly
TgeneMTHFD1Lchr19:51175275chr6:151330955ENST000003673211928423_430708.3333333333334932.6666666666666Nucleotide bindingATP
TgeneMTHFD1Lchr19:51175275chr6:151330955ENST00000367321192831_348708.3333333333334932.6666666666666RegionNote=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
TgeneMTHFD1Lchr19:51175275chr6:151330955ENST000003673211928349_978708.3333333333334932.6666666666666RegionNote=Formyltetrahydrofolate synthetase


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Fusion Gene Sequence for SHANK1-MTHFD1L


check button 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_ENST00000391813_ENST00000367321_TCGA-A8-A08I-01A_SHANK1_chr19_51175275_-_MTHFD1L_chr6_151330955_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

>In-frame_ENST00000391813_ENST00000367321_TCGA-A8-A08I-01A_SHANK1_chr19_51175275_-_MTHFD1L_chr6_151330955_length(amino acids)=548AA_start in transcript=0_stop in transcript=1646
MQLMALEQRFGSGLPGGGQPLCLMMSSPLPPPPPHFSCLPASDYIIKEKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLE
SVDEGGVAWRAGLRMGDFLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSEL
EEMEYEQQPAPVPSMEKKRTVYQMALNKLDEILAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPG
LMLRQKSIVTEAGFGADIGMEKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQL
FGVPVVVALNVFKTDTRAEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAK
DIELSPEAQAKIDRYTQQGFGNLPICMAKTHLSLSHQPDKKGVPRDFILPISDVRASIGAGFIYPLVGTMSTMPGLPTRPCFYDIDLDTE

--------------------------------------------------------------
>In-frame_ENST00000293441_ENST00000367321_TCGA-A8-A08I-01A_SHANK1_chr19_51175275_-_MTHFD1L_chr6_151330955_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

>In-frame_ENST00000293441_ENST00000367321_TCGA-A8-A08I-01A_SHANK1_chr19_51175275_-_MTHFD1L_chr6_151330955_length(amino acids)=1161AA_start in transcript=19_stop in transcript=3504
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKE
TCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARRRGPPGTGLTVPPALLRANSDTSMALPDWMV
FSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGS
LGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRVGWFPSDCLEEVANRSQESKQESRSDKAKRL
FRHYTVGSYDSFDAPSLMDGIGPGSDYIIKEKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGD
FLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSELEEMEYEQQPAPVPSMEK
KRTVYQMALNKLDEILAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIVTEAGFGAD
IGMEKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTR
AEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQ

--------------------------------------------------------------
>In-frame_ENST00000359082_ENST00000367321_TCGA-A8-A08I-01A_SHANK1_chr19_51175275_-_MTHFD1L_chr6_151330955_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

>In-frame_ENST00000359082_ENST00000367321_TCGA-A8-A08I-01A_SHANK1_chr19_51175275_-_MTHFD1L_chr6_151330955_length(amino acids)=1152AA_start in transcript=0_stop in transcript=3458
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRF
NPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLG
GSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKE
TCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARRRGPPGTGLTVPPALLRANSDTSMALPDWMV
FSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGS
LGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRVGWFPSDCLEEVANRSQESKQESRSDKAKRL
FRHYTVGSYDSFDAPSDYIIKEKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGDFLIEVNGQN
VVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSELEEMEYEQQPAPVPSMEKKRTVYQMAL
NKLDEILAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIVTEAGFGADIGMEKFFNI
KCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTRAEIDLVCEL
AKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQQGFGNLPIC

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

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Fusion Gene PPI Analysis for SHANK1-MTHFD1L


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for SHANK1-MTHFD1L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SHANK1-MTHFD1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSHANK1C0003469Anxiety Disorders1CTD_human
HgeneSHANK1C0004352Autistic Disorder1CTD_human;GENOMICS_ENGLAND
HgeneSHANK1C0007134Renal Cell Carcinoma1CTD_human
HgeneSHANK1C0011757Developmental Coordination Disorder1CTD_human
HgeneSHANK1C0026613Motor Skills Disorders1CTD_human
HgeneSHANK1C0033975Psychotic Disorders1PSYGENET
HgeneSHANK1C0036341Schizophrenia1PSYGENET
HgeneSHANK1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneSHANK1C0349204Nonorganic psychosis1PSYGENET
HgeneSHANK1C0376280Anxiety States, Neurotic1CTD_human
HgeneSHANK1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneSHANK1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneSHANK1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneSHANK1C1279420Anxiety neurosis (finding)1CTD_human
HgeneSHANK1C1306837Papillary Renal Cell Carcinoma1CTD_human