FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:UBAC1-TBCD (FusionGDB2 ID:95217)

Fusion Gene Summary for UBAC1-TBCD

check button Fusion gene summary
Fusion gene informationFusion gene name: UBAC1-TBCD
Fusion gene ID: 95217
HgeneTgene
Gene symbol

UBAC1

TBCD

Gene ID

10422

6904

Gene nameUBA domain containing 1tubulin folding cofactor D
SynonymsGBDR1|KPC2|UBADC1PEBAT|SSD-1|tfcD
Cytomap

9q34.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-associated domain-containing protein 1E3 ubiquitin-protein ligase subunit KPC2Kip1 ubiquitination-promoting complex subunit 2UBA domain-containing protein 1glialblastoma cell differentiation-related protein 1kip1 ubiquitination-promoting cotubulin-specific chaperone Dbeta-tubulin cofactor D
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000371756, ENST00000465873, 
ENST00000355528, ENST00000397466, 
ENST00000539345, ENST00000576691, 
Fusion gene scores* DoF score6 X 5 X 5=15019 X 22 X 13=5434
# samples 728
** MAII scorelog2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/5434*10)=-4.27851583327701
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBAC1 [Title/Abstract] AND TBCD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUBAC1(138852870)-TBCD(80755632), # samples:1
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)

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

GO:0006457

protein folding

20740604

TgeneTBCD

GO:0007021

tubulin complex assembly

28158450

TgeneTBCD

GO:0007023

post-chaperonin tubulin folding pathway

11847227

TgeneTBCD

GO:0031115

negative regulation of microtubule polymerization

10831612|20740604


check buttonFusion gene breakpoints across UBAC1 (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 TBCD (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
ChimerDB4Non-Cancer61NUBAC1chr9

138852870

-TBCDchr17

80755632

+


Top

Fusion Gene ORF analysis for UBAC1-TBCD

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-frameENST00000371756ENST00000355528UBAC1chr9

138852870

-TBCDchr17

80755632

+
5CDS-5UTRENST00000371756ENST00000397466UBAC1chr9

138852870

-TBCDchr17

80755632

+
5CDS-5UTRENST00000371756ENST00000539345UBAC1chr9

138852870

-TBCDchr17

80755632

+
5CDS-intronENST00000371756ENST00000576691UBAC1chr9

138852870

-TBCDchr17

80755632

+
intron-3CDSENST00000465873ENST00000355528UBAC1chr9

138852870

-TBCDchr17

80755632

+
intron-5UTRENST00000465873ENST00000397466UBAC1chr9

138852870

-TBCDchr17

80755632

+
intron-5UTRENST00000465873ENST00000539345UBAC1chr9

138852870

-TBCDchr17

80755632

+
intron-intronENST00000465873ENST00000576691UBAC1chr9

138852870

-TBCDchr17

80755632

+

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)
ENST00000371756UBAC1chr9138852870-ENST00000355528TBCDchr1780755632+35493562183163981

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
ENST00000371756ENST00000355528UBAC1chr9138852870-TBCDchr1780755632+0.0017194580.9982805

Top

Fusion Genomic Features for UBAC1-TBCD


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)
UBAC1chr9138852870-TBCDchr1780755632+0.0002482370.99975175
UBAC1chr9138852870-TBCDchr1780755632+0.0002482370.99975175

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.

Top

Fusion Protein Features for UBAC1-TBCD


check button Go to

FGviewer for the breakpoints of chr9:138852870-chr17:80755632

.
- 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
..
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: 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.

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
TgeneTBCDchr9:138852870chr17:80755632ENST00000355528639361_399257.01193.0RepeatNote=HEAT 1
TgeneTBCDchr9:138852870chr17:80755632ENST00000355528639557_594257.01193.0RepeatNote=HEAT 2
TgeneTBCDchr9:138852870chr17:80755632ENST00000355528639596_632257.01193.0RepeatNote=HEAT 3

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUBAC1chr9:138852870chr17:80755632ENST00000371756-11014_9846.0406.0DomainNote=Ubiquitin-like
HgeneUBAC1chr9:138852870chr17:80755632ENST00000371756-110187_23146.0406.0DomainUBA 1
HgeneUBAC1chr9:138852870chr17:80755632ENST00000371756-110288_32846.0406.0DomainUBA 2
HgeneUBAC1chr9:138852870chr17:80755632ENST00000371756-110353_39246.0406.0DomainNote=STI1


Top

Fusion Gene Sequence for UBAC1-TBCD


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_ENST00000371756_ENST00000355528_61N_UBAC1_chr9_138852870_-_TBCD_chr17_80755632_length(transcript)=3549nt_BP=356nt
CCGCGACGGCGCGCCCCCGGCGGCTGCTGCGGCGGCGGGAGCGAGGCGACCGCTGAGGCCGCGGAGAGTGACGGCGGCCCGGCCGACGGG
AGCCGGGGCGGGGCGGCGGCCCAGCGAAGGAGCGCGCGGGCGGTCTGGCCCCGCCCCCTCCCCGCCCGCCTTCCCGGTGACCTTCAGGGG
CCCGGGTGGCGGGCGCAGGCCCCTGCGGCGGCGGCGGGATGTTCGTGCAGGAGGAGAAGATCTTCGCGGGCAAGGTGCTGCGGCTGCACA
TCTGCGCGTCCGACGGCGCCGAGTGGCTGGAGGAGGCCACCGAGGACACCTCGGTGGAGAAGCTCAAGGAGCGCTGCCTCAAGCACGCAC
AAATATTTAAACATGGAAAACGTGAAGACTGTTTGCCCTATGCTGCCACTGTCCTCAGGTGCCTCGATGGCTGCAGACTCCCTGAGAGCA
ACCAGACCCTGCTGCGGAAGCTGGGGGTGAAGCTTGTGCAGCGACTGGGGCTGACATTCCTGAAGCCGAAGGTGGCAGCATGGAGGTACC
AGCGTGGCTGCCGATCTTTGGCTGCAAATCTGCAGCTCCTCACTCAGGGTCAGAGTGAGCAGAAGCCACTCATCCTGACCGAAGATGACG
ACGAAGATGACGACGTCCCAGAGGGGGTGGAGCGTGTGATAGAGCAGCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCGGTGGT
CTGCAGCCAAGGGCATCGGTAGGATGGCTGGCAGGCTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTTCAGTT
TCCAGGAGACTGACAAGGCGTGGCATGGGGGATGTCTGGCGCTGGCAGAGCTGGGCAGGAGAGGCCTGTTGCTGCCGTCTCGACTCGTGG
ATGTTGTCGCCGTGATCCTGAAGGCGCTGACCTACGACGAGAAGCGGGGTGCCTGCAGCGTGGGCACCAACGTCAGGGACGCCGCCTGCT
ACGTGTGCTGGGCCTTCGCGCGTGCCTATGAGCCTCAGGAGCTGAAGCCCTTTGTGACTGCAATCTCGAGTGCACTGGTGATTGCTGCGG
TGTTTGACCGAGACATAAACTGCAGAAGAGCAGCCTCTGCCGCCTTCCAGGAGAATGTGGGGAGACAGGGCACTTTCCCTCATGGTATTG
ATATTTTGACCACAGCTGACTATTTTGCCGTCGGTAACAGATCCAACTGTTTCCTGGTTATAAGTGTGTTTATTGCCGGCTTTCCTGAGT
ACACGCAGCCAATGATAGACCACCTGGTTACCATGAAGATCAGCCACTGGGATGGGGTCATCCGAGAGTTGGCTGCGAGGGCGCTGCACA
ACCTGGCCCAGCAGGCACCCGAGTTCAGCGCCACGCAAGTCTTCCCGAGGCTGCTGTCCATGACACTGAGTCCAGATCTTCACATGAGGC
ATGGGTCGATTCTCGCCTGCGCAGAAGTTGCTTACGCCTTGTACAAACTTGCAGCCCAAGAGAACAGGCCCGTCACGGACCATCTGGACG
AGCAGGCAGTGCAGGGCCTGAAGCAGATTCACCAGCAGCTCTATGATCGTCAGTTATACAGGGGTCTGGGAGGACAGCTCATGAGACAAG
CAGTGTGTGTTTTAATAGAAAAGTTGTCACTTTCCAAAATGCCCTTTAGAGGTGACACCGTAATTGATGGTTGGCAATGGCTGATAAATG
ACACTTTGAGACATCTCCATCTCATCTCAAGTCACTCCCGCCAGCAGATGAAGGATGCAGCAGTCTCGGCCCTGGCTGCTCTATGCAGTG
AATATTACATGAAGGAGCCGGGGGAGGCAGATCCCGCAATTCAGGAGGAGCTGATCACGCAGTACCTGGCTGAGCTTCGGAACCCCGAGG
AGATGACTCGCTGTGGCTTCTCGTTGGCCTTGGGCGCCCTTCCAGGCTTCCTTCTGAAAGGCCGGCTCCAGCAGGTTCTCACAGGTTTAA
GAGCAGTTACCCACACTTCCCCCGAGGACGTAAGTTTTGCTGAGTCCAGGAGAGACGGCTTGAAGGCCATTGCGAGGATTTGCCAGACTG
TTGGTGTGAAAGCAGGAGCCCCAGACGAAGCTGTGTGCGGAGAGAATGTTTCCCAGATTTACTGTGCGCTGCTGGGCTGCATGGACGACT
ACACCACGGACAGCAGAGGGGACGTGGGCACCTGGGTCCGCAAGGCCGCCATGACCAGTCTGATGGATCTGACACTTCTGCTGGCTCGGA
GCCAGCCTGAGCTGATCGAGGCCCATACCTGTGAGCGCATCATGTGCTGTGTGGCCCAGCAGGCCAGTGAGAAGATTGACCGTTTCCGTG
CTCACGCCGCCAGCGTGTTCCTGACGCTCCTGCACTTTGACAGCCCTCCCATCCCCCACGTGCCCCACCGAGGAGAACTGGAAAAGCTGT
TTCCCAGGTCCGATGTGGCCTCCGTGAACTGGAGTGCACCTTCCCAGGCCTTCCCACGCATCACCCAGCTCCTTGGGCTGCCCACCTACC
GCTACCACGTCCTGCTGGGGCTAGTCGTGTCCCTGGGCGGCTTGACGGAGTCGACGATCCGGCACTCCACCCAGAGCCTCTTTGAGTACA
TGAAGGGCATTCAGAGCGACCCGCAGGCCCTGGGCAGCTTCAGCGGGACCCTTCTGCAGATCTTTGAGGACAACCTTCTGAATGAGAGGG
TGTCCGTGCCGCTGCTGAAGACGCTGGACCACGTGCTCACCCACGGCTGCTTCGACATCTTCACCACGGAGGAGGACCACCCCTTTGCTG
TGAAGTTGCTTGCGCTCTGTAAGAAAGAAATCAAGAATTCAAAAGATATCCAGAAGCTCCTGTCAGGCATCGCAGTGTTCTGCGAGATGG
TGCAGTTCCCCGGCGACGTGAGGAGGCAGGCCCTCCTGCAGCTGTGTCTGCTCCTCTGCCACCGTTTCCCGCTGATCCGGAAGACCACGG
CCAGCCAGGTGTACGAGACATTGCTCACCTACAGTGACGTCGTGGGCGCGGATGTGCTGGACGAGGTGGTGACTGTGCTCAGTGACACTG
CGTGGGACGCGGAGCTTGCAGTGGTGAGAGAGCAGCGCAACCGTCTGTGTGACCTTCTGGGCGTACCCAGGCCCCAGCTGGTGCCCCAGC
CTGGTGCCTGCTGAAGCCAGTCCTGGAGCCCATACCTCACCCCTGCCTGGTGAGGATGTCTTGTTCCTGAGGGAGGCCGGTGTGGAAAGC
CTCGCACAGTGGTGCCTCCAGCTGTTGAAGGGTAGCGCTGGCCCTTGGAGGCTGGCACTAGCTGACAGCTTTTCCTCTCTGCACCTGCGC
TCTGGTGACTTGGGGTGGACGCCTCTGCCTTCACTTGAACACAAATGTGCTTCCTATAAAATCATGTACCAAGAAGTTCCTGCCTTTTGT
CTCTGAGCCTGATGTGTGTAGGGGTGATGGAAAGGCTCACTGCCCAGGGGTCAGCCAGAGGGGAGGTGGGCTGCACTCCTCCTGCCTGGA

>In-frame_ENST00000371756_ENST00000355528_61N_UBAC1_chr9_138852870_-_TBCD_chr17_80755632_length(amino acids)=981AA_start in transcript=218_stop in transcript=3163
MFVQEEKIFAGKVLRLHICASDGAEWLEEATEDTSVEKLKERCLKHAQIFKHGKREDCLPYAATVLRCLDGCRLPESNQTLLRKLGVKLV
QRLGLTFLKPKVAAWRYQRGCRSLAANLQLLTQGQSEQKPLILTEDDDEDDDVPEGVERVIEQLLVGLKDKDTVVRWSAAKGIGRMAGRL
PRALADDVVGSVLDCFSFQETDKAWHGGCLALAELGRRGLLLPSRLVDVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQ
ELKPFVTAISSALVIAAVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMK
ISHWDGVIRELAARALHNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQ
LYDRQLYRGLGGQLMRQAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPA
IQEELITQYLAELRNPEEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVC
GENVSQIYCALLGCMDDYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHF
DSPPIPHVPHRGELEKLFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGS
FSGTLLQIFEDNLLNERVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALL

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

Top

Fusion Gene PPI Analysis for UBAC1-TBCD


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


Top

Related Drugs for UBAC1-TBCD


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

Top

Related Diseases for UBAC1-TBCD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTBCDC4310671ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneTBCDC0025958Microcephaly2CTD_human
TgeneTBCDC0036572Seizures2CTD_human;GENOMICS_ENGLAND
TgeneTBCDC1956147Microlissencephaly2CTD_human
TgeneTBCDC3853041Severe Congenital Microcephaly2CTD_human
TgeneTBCDC0008073Developmental Disabilities1CTD_human
TgeneTBCDC0020796Profound Mental Retardation1CTD_human
TgeneTBCDC0022333Jacksonian Seizure1CTD_human
TgeneTBCDC0023944Locked-In Syndrome1CTD_human
TgeneTBCDC0025363Mental Retardation, Psychosocial1CTD_human
TgeneTBCDC0029124Optic Atrophy1CTD_human
TgeneTBCDC0034372Quadriplegia1CTD_human
TgeneTBCDC0035229Respiratory Insufficiency1CTD_human
TgeneTBCDC0037769West Syndrome1GENOMICS_ENGLAND
TgeneTBCDC0085996Child Development Deviations1CTD_human
TgeneTBCDC0085997Child Development Disorders, Specific1CTD_human
TgeneTBCDC0149958Complex partial seizures1CTD_human
TgeneTBCDC0151786Muscle Weakness1CTD_human
TgeneTBCDC0234533Generalized seizures1CTD_human
TgeneTBCDC0234535Clonic Seizures1CTD_human
TgeneTBCDC0235063Respiratory Depression1CTD_human
TgeneTBCDC0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneTBCDC0270790Quadriparesis1CTD_human
TgeneTBCDC0270824Visual seizure1CTD_human
TgeneTBCDC0270844Tonic Seizures1CTD_human
TgeneTBCDC0270846Epileptic drop attack1CTD_human
TgeneTBCDC0422850Seizures, Somatosensory1CTD_human
TgeneTBCDC0422852Seizures, Auditory1CTD_human
TgeneTBCDC0422853Olfactory seizure1CTD_human
TgeneTBCDC0422854Gustatory seizure1CTD_human
TgeneTBCDC0422855Vertiginous seizure1CTD_human
TgeneTBCDC0426970Spastic Quadriplegia1CTD_human
TgeneTBCDC0431380Cortical Dysplasia1CTD_human
TgeneTBCDC0494475Tonic - clonic seizures1CTD_human
TgeneTBCDC0524851Neurodegenerative Disorders1CTD_human
TgeneTBCDC0751056Non-epileptic convulsion1CTD_human
TgeneTBCDC0751110Single Seizure1CTD_human
TgeneTBCDC0751123Atonic Absence Seizures1CTD_human
TgeneTBCDC0751460Flaccid Quadriplegia1CTD_human
TgeneTBCDC0751461Paralysis, Spinal, Quadriplegic1CTD_human
TgeneTBCDC0751494Convulsive Seizures1CTD_human
TgeneTBCDC0751495Seizures, Focal1CTD_human
TgeneTBCDC0751496Seizures, Sensory1CTD_human
TgeneTBCDC0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneTBCDC0917816Mental deficiency1CTD_human
TgeneTBCDC1145670Respiratory Failure1CTD_human
TgeneTBCDC1955869Malformations of Cortical Development1CTD_human
TgeneTBCDC3495874Nonepileptic Seizures1CTD_human
TgeneTBCDC3714756Intellectual Disability1CTD_human
TgeneTBCDC4048158Convulsions1CTD_human
TgeneTBCDC4316903Absence Seizures1CTD_human
TgeneTBCDC4317109Epileptic Seizures1CTD_human
TgeneTBCDC4317123Myoclonic Seizures1CTD_human
TgeneTBCDC4505436Generalized Absence Seizures1CTD_human