UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level2
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein Structure

leaf

pLDDT scores

leaf

Ramachandran Plot of Fusion Protein Structure

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:MTHFD1L-RNF216

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MTHFD1L-RNF216
FusionPDB ID: 55685
FusionGDB2.0 ID: 55685
HgeneTgene
Gene symbol

MTHFD1L

RNF216

Gene ID

25902

54476

Gene namemethylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 likering finger protein 216
SynonymsFTHFSDC1|MTC1THFS|dJ292B18.2CAHH|TRIAD3|U7I1|UBCE7IP1|ZIN
Cytomap

6q25.1

7p22.1

Type of geneprotein-codingprotein-coding
Descriptionmonofunctional C1-tetrahydrofolate synthase, mitochondrial10-formyl-THF synthetaseformyltetrahydrofolate synthetase domain containing 1E3 ubiquitin-protein ligase RNF216RING-type E3 ubiquitin transferase RNF216triad domain-containing protein 3ubiquitin-conjugating enzyme 7-interacting protein 1zinc finger protein inhibiting NF-kappa-B
Modification date2020031320200313
UniProtAcc

Q6UB35

Q9NWF9

Ensembl transtripts involved in fusion geneENST idsENST00000478643, ENST00000367321, 
ENST00000367307, 
ENST00000389902, 
ENST00000425013, ENST00000469375, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 14 X 5=77017 X 18 X 11=3366
# samples 1333
** MAII scorelog2(13/770*10)=-2.56634682255381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/3366*10)=-3.35049724708413
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MTHFD1L [Title/Abstract] AND RNF216 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MTHFD1L(151293194)-RNF216(5760803), # samples:3
RNF216(5764955)-MTHFD1L(151330955), # samples:3
Anticipated loss of major functional domain due to fusion event.MTHFD1L-RNF216 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MTHFD1L-RNF216 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MTHFD1L-RNF216 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MTHFD1L-RNF216 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RNF216-MTHFD1L seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
RNF216-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
HgeneMTHFD1L

GO:0006760

folic acid-containing compound metabolic process

12937168

HgeneMTHFD1L

GO:0009257

10-formyltetrahydrofolate biosynthetic process

12937168

HgeneMTHFD1L

GO:0015942

formate metabolic process

16171773

TgeneRNF216

GO:0032648

regulation of interferon-beta production

19893624

TgeneRNF216

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

19893624

TgeneRNF216

GO:0050691

regulation of defense response to virus by host

19893624

TgeneRNF216

GO:0070936

protein K48-linked ubiquitination

19893624


check buttonFusion gene breakpoints across MTHFD1L (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across RNF216 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4HNSCTCGA-CV-7236-01AMTHFD1Lchr6

151293194

-RNF216chr7

5760803

-
ChimerDB4HNSCTCGA-CV-7236-01AMTHFD1Lchr6

151293194

+RNF216chr7

5760803

-
ChimerDB4HNSCTCGA-CV-7236MTHFD1Lchr6

151293194

+RNF216chr7

5760803

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000367321MTHFD1Lchr6151293194+ENST00000425013RNF216chr75760803-648023992536661213
ENST00000367321MTHFD1Lchr6151293194+ENST00000389902RNF216chr75760803-392023992536661213

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
ENST00000367321ENST00000425013MTHFD1Lchr6151293194+RNF216chr75760803-0.0027275510.99727243
ENST00000367321ENST00000389902MTHFD1Lchr6151293194+RNF216chr75760803-0.0039333180.99606675

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>55685_55685_1_MTHFD1L-RNF216_MTHFD1L_chr6_151293194_ENST00000367321_RNF216_chr7_5760803_ENST00000389902_length(amino acids)=1213AA_BP=791
MSGTAYQTKVPKAVTSRPAARRPPPSARHGRRVQCPLGAPGTRRKRQVLPAAAAAAAACSPGTRPAALGSRSSVSPENQPSRAMGTRLPL
VLRQLRRPPQPPGPPRRLRVPCRASSGGGGGGGGGREGLLGQRRPQDGQARSSCSPGGRTPAARDSIVREVIQNSKEVLSLLQEKNPAFK
PVLAIIQAGDDNLMQEINQNLAEEAGLNITHICLPPDSSEAEIIDEILKINEDTRVHGLALQISENLFSNKVLNALKPEKDVDGVTDINL
GKLVRGDAHECFVSPVAKAVIELLEKSGVNLDGKKILVVGAHGSLEAALQCLFQRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEI
PLTWIQPGTTVLNCSHDFLSGKVGCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHCLKLQPLSPVPSDIEISR
GQTPKAVDVLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGITPTPLGEGKSTVTIGLVQALTAHLNVNSFACLRQPSQ
GPTFGVKGGAAGGGYAQVIPMEEFNLHLTGDIHAITAANNLLAAAIDTRILHENTQTDKALYNRLVPLVNGVREFSEIQLARLKKLGINK
TDPSTLTEEEVSKFARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYRQAQFDIAVASEIMAVLALTDSLADMKARLGRMVVASD
KSGQPVTADDLGVTGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSVLADKIALKLVGEEGFVGDIKIEKRMFFLENKRRHC
RSYDRRALLPAVQQEQEFYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKECLIRYAQEAVFGSG
KLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYADELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEH
NGLTCEELAEKDDIKYRTSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSPGAPCQECSRCSLW
TDPTEDDEKLIEEIQKEAEEEQKRKNGENTFKRIGPPLEKPVEKVQRVEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNM

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

>55685_55685_2_MTHFD1L-RNF216_MTHFD1L_chr6_151293194_ENST00000367321_RNF216_chr7_5760803_ENST00000425013_length(amino acids)=1213AA_BP=791
MSGTAYQTKVPKAVTSRPAARRPPPSARHGRRVQCPLGAPGTRRKRQVLPAAAAAAAACSPGTRPAALGSRSSVSPENQPSRAMGTRLPL
VLRQLRRPPQPPGPPRRLRVPCRASSGGGGGGGGGREGLLGQRRPQDGQARSSCSPGGRTPAARDSIVREVIQNSKEVLSLLQEKNPAFK
PVLAIIQAGDDNLMQEINQNLAEEAGLNITHICLPPDSSEAEIIDEILKINEDTRVHGLALQISENLFSNKVLNALKPEKDVDGVTDINL
GKLVRGDAHECFVSPVAKAVIELLEKSGVNLDGKKILVVGAHGSLEAALQCLFQRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEI
PLTWIQPGTTVLNCSHDFLSGKVGCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHCLKLQPLSPVPSDIEISR
GQTPKAVDVLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGITPTPLGEGKSTVTIGLVQALTAHLNVNSFACLRQPSQ
GPTFGVKGGAAGGGYAQVIPMEEFNLHLTGDIHAITAANNLLAAAIDTRILHENTQTDKALYNRLVPLVNGVREFSEIQLARLKKLGINK
TDPSTLTEEEVSKFARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYRQAQFDIAVASEIMAVLALTDSLADMKARLGRMVVASD
KSGQPVTADDLGVTGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSVLADKIALKLVGEEGFVGDIKIEKRMFFLENKRRHC
RSYDRRALLPAVQQEQEFYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKECLIRYAQEAVFGSG
KLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYADELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEH
NGLTCEELAEKDDIKYRTSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSPGAPCQECSRCSLW
TDPTEDDEKLIEEIQKEAEEEQKRKNGENTFKRIGPPLEKPVEKVQRVEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNM

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

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:151293194/chr7:5760803)
- 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.
FGviewer

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

Q6UB35

RNF216

Q9NWF9

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}.FUNCTION: Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis. {ECO:0000269|PubMed:15107846, ECO:0000269|PubMed:19893624}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMTHFD1Lchr6:151293194chr7:5760803ENST00000367321+202834_42708.3333333333334932.6666666666666Compositional biasNote=Poly-Gly
HgeneMTHFD1Lchr6:151293194chr7:5760803ENST00000367321+2028423_430708.3333333333334932.6666666666666Nucleotide bindingATP
HgeneMTHFD1Lchr6:151293194chr7:5760803ENST00000367321+202831_348708.3333333333334932.6666666666666RegionNote=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
TgeneRNF216chr6:151293194chr7:5760803ENST00000389902717737_763501.3333333333333924.0Coiled coilOntology_term=ECO:0000255
TgeneRNF216chr6:151293194chr7:5760803ENST00000425013717475_491444.3333333333333867.0Coiled coilOntology_term=ECO:0000255
TgeneRNF216chr6:151293194chr7:5760803ENST00000425013717737_763444.3333333333333867.0Coiled coilOntology_term=ECO:0000255
TgeneRNF216chr6:151293194chr7:5760803ENST00000389902717769_862501.3333333333333924.0Compositional biasNote=Pro-rich
TgeneRNF216chr6:151293194chr7:5760803ENST00000425013717769_862444.3333333333333867.0Compositional biasNote=Pro-rich
TgeneRNF216chr6:151293194chr7:5760803ENST00000389902717511_728501.3333333333333924.0RegionTRIAD supradomain
TgeneRNF216chr6:151293194chr7:5760803ENST00000425013717511_728444.3333333333333867.0RegionTRIAD supradomain
TgeneRNF216chr6:151293194chr7:5760803ENST00000389902717515_564501.3333333333333924.0Zinc fingerRING-type 1
TgeneRNF216chr6:151293194chr7:5760803ENST00000389902717583_648501.3333333333333924.0Zinc fingerIBR-type
TgeneRNF216chr6:151293194chr7:5760803ENST00000389902717675_703501.3333333333333924.0Zinc fingerRING-type 2%3B atypical
TgeneRNF216chr6:151293194chr7:5760803ENST00000425013717515_564444.3333333333333867.0Zinc fingerRING-type 1
TgeneRNF216chr6:151293194chr7:5760803ENST00000425013717583_648444.3333333333333867.0Zinc fingerIBR-type
TgeneRNF216chr6:151293194chr7:5760803ENST00000425013717675_703444.3333333333333867.0Zinc fingerRING-type 2%3B atypical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMTHFD1Lchr6:151293194chr7:5760803ENST00000367307+1834_420276.0Compositional biasNote=Poly-Gly
HgeneMTHFD1Lchr6:151293194chr7:5760803ENST00000367307+18423_4300276.0Nucleotide bindingATP
HgeneMTHFD1Lchr6:151293194chr7:5760803ENST00000367307+1831_3480276.0RegionNote=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
HgeneMTHFD1Lchr6:151293194chr7:5760803ENST00000367307+18349_9780276.0RegionNote=Formyltetrahydrofolate synthetase
HgeneMTHFD1Lchr6:151293194chr7:5760803ENST00000367321+2028349_978708.3333333333334932.6666666666666RegionNote=Formyltetrahydrofolate synthetase
TgeneRNF216chr6:151293194chr7:5760803ENST00000389902717475_491501.3333333333333924.0Coiled coilOntology_term=ECO:0000255


Top

Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1935_MTHFD1L_151293194_RNF216_5760803_ranked_0.pdbMTHFD1L151293194151293194ENST00000389902RNF216chr75760803-
MSGTAYQTKVPKAVTSRPAARRPPPSARHGRRVQCPLGAPGTRRKRQVLPAAAAAAAACSPGTRPAALGSRSSVSPENQPSRAMGTRLPL
VLRQLRRPPQPPGPPRRLRVPCRASSGGGGGGGGGREGLLGQRRPQDGQARSSCSPGGRTPAARDSIVREVIQNSKEVLSLLQEKNPAFK
PVLAIIQAGDDNLMQEINQNLAEEAGLNITHICLPPDSSEAEIIDEILKINEDTRVHGLALQISENLFSNKVLNALKPEKDVDGVTDINL
GKLVRGDAHECFVSPVAKAVIELLEKSGVNLDGKKILVVGAHGSLEAALQCLFQRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEI
PLTWIQPGTTVLNCSHDFLSGKVGCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHCLKLQPLSPVPSDIEISR
GQTPKAVDVLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGITPTPLGEGKSTVTIGLVQALTAHLNVNSFACLRQPSQ
GPTFGVKGGAAGGGYAQVIPMEEFNLHLTGDIHAITAANNLLAAAIDTRILHENTQTDKALYNRLVPLVNGVREFSEIQLARLKKLGINK
TDPSTLTEEEVSKFARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYRQAQFDIAVASEIMAVLALTDSLADMKARLGRMVVASD
KSGQPVTADDLGVTGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSVLADKIALKLVGEEGFVGDIKIEKRMFFLENKRRHC
RSYDRRALLPAVQQEQEFYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKECLIRYAQEAVFGSG
KLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYADELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEH
NGLTCEELAEKDDIKYRTSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSPGAPCQECSRCSLW
TDPTEDDEKLIEEIQKEAEEEQKRKNGENTFKRIGPPLEKPVEKVQRVEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNM
1213


Top

pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
MTHFD1L_pLDDT.png
all structure
all structure
RNF216_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


Top

Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MTHFD1L
RNF216all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to MTHFD1L-RNF216


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to MTHFD1L-RNF216


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRNF216C1859305Cerebellar Ataxia and Hypogonadotropic Hypogonadism2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT