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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CD74-TCHH

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CD74-TCHH
FusionPDB ID: 14658
FusionGDB2.0 ID: 14658
HgeneTgene
Gene symbol

CD74

TCHH

Gene ID

972

7062

Gene nameCD74 moleculetrichohyalin
SynonymsDHLAG|HLADG|II|Ia-GAMMA|p33THH|THL|TRHY|UHS3
Cytomap

5q33.1

1q21.3

Type of geneprotein-codingprotein-coding
DescriptionHLA class II histocompatibility antigen gamma chainCD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)CD74 molecule, major histocompatibility complex, class II invariant chainHLA-DR antigens-associated trichohyalin
Modification date2020031320200313
UniProtAcc

P04233

.
Ensembl transtripts involved in fusion geneENST idsENST00000009530, ENST00000353334, 
ENST00000524315, ENST00000377795, 
ENST00000368804, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score43 X 51 X 20=438601 X 1 X 1=1
# samples 591
** MAII scorelog2(59/43860*10)=-6.21604704731175
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: CD74 [Title/Abstract] AND TCHH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CD74(149786715)-TCHH(152084789), # samples:1
Anticipated loss of major functional domain due to fusion event.CD74-TCHH 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.
CD74-TCHH 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.
CD74-TCHH 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.
CD74-TCHH 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.
CD74-TCHH seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CD74-TCHH seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CD74-TCHH 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
HgeneCD74

GO:0001516

prostaglandin biosynthetic process

12782713

HgeneCD74

GO:0001934

positive regulation of protein phosphorylation

24942581

HgeneCD74

GO:0002792

negative regulation of peptide secretion

19849849

HgeneCD74

GO:0033674

positive regulation of kinase activity

24942581

HgeneCD74

GO:0043066

negative regulation of apoptotic process

12782713

HgeneCD74

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

24942581

HgeneCD74

GO:0043410

positive regulation of MAPK cascade

24942581

HgeneCD74

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

17045821

HgeneCD74

GO:0045657

positive regulation of monocyte differentiation

24942581

HgeneCD74

GO:0045893

positive regulation of transcription, DNA-templated

24942581

HgeneCD74

GO:0046598

positive regulation of viral entry into host cell

24942581

HgeneCD74

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

17045821

HgeneCD74

GO:0070374

positive regulation of ERK1 and ERK2 cascade

17045821|24942581


check buttonFusion gene breakpoints across CD74 (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 TCHH (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChiTaRS5.0N/ADA932721CD74chr5

149786715

-TCHHchr1

152084789

+


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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)
ENST00000377795CD74chr5149786715-ENST00000368804TCHHchr1152084789+631531842952461605

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
ENST00000377795ENST00000368804CD74chr5149786715-TCHHchr1152084789+0.0238367240.9761632

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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

>14658_14658_1_CD74-TCHH_CD74_chr5_149786715_ENST00000377795_TCHH_chr1_152084789_ENST00000368804_length(amino acids)=1605AA_BP=48
MRREQEERREQQLRREQEEERREQQLRREQEEERREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRRE
QEEERHEQKHEQERREQRLKREQEERRDWLKREEETERHEQERRKQQLKRDQEEERRERWLKLEEEERREQQERREQQLRREQEERREQR
LKRQEEEERLQQRLRSEQQLRREQEERREQLLKREEEKRLEQERREQRLKREQEERRDQLLKREEERRQQRLKREQEERLEQRLKREEVE
RLEQEERREQRLKREEPEEERRQQLLKSEEQEERRQQQLRREQQERREQRLKREEEEERLEQRLKREHEEERREQELAEEEQEQARERIK
SRIPKWQWQLESEADARQSKVYSRPRKQEGQRRRQEQEEKRRRRESELQWQEEERAHRQQQEEEQRRDFTWQWQAEEKSERGRQRLSARP
PLREQRERQLRAEERQQREQRFLPEEEEKEQRRRQRREREKELQFLEEEEQLQRRERAQQLQEEEDGLQEDQERRRSQEQRRDQKWRWQL
EEERKRRRHTLYAKPALQEQLRKEQQLLQEEEEELQREEREKRRRQEQERQYREEEQLQQEEEQLLREEREKRRRQERERQYRKDKKLQQ
KEEQLLGEEPEKRRRQEREKKYREEEELQQEEEQLLREEREKRRRQEWERQYRKKDELQQEEEQLLREEREKRRLQERERQYREEEELQQ
EEEQLLGEERETRRRQELERQYRKEEELQQEEEQLLREEPEKRRRQERERQCREEEELQQEEEQLLREEREKRRRQELERQYREEEEVQQ
EEEQLLREEPEKRRRQELERQYREEEELQQEEEQLLREEQEKRRQERERQYREEEELQRQKRKQRYRDEDQRSDLKWQWEPEKENAVRDN
KVYCKGRENEQFRQLEDSQLRDRQSQQDLQHLLGEQQERDREQERRRWQQRDRHFPEEEQLEREEQKEAKRRDRKSQEEKQLLREEREEK
RRRQETDRKFREEEQLLQEREEQPLRRQERDRKFREEELRHQEQGRKFLEEEQRLRRQERERKFLKEEQQLRCQEREQQLRQDRDRKFRE
EEQQLSRQERDRKFREEEQQVRRQERERKFLEEEQQLRQERHRKFREEEQLLQEREEQQLHRQERDRKFLEEEQQLRRQERDRKFREQEL
RSQEPERKFLEEEQQLHRQQRQRKFLQEEQQLRRQERGQQRRQDRDRKFREEEQLRQEREEQQLSRQERDRKFRLEEQKVRRQEQERKFM
EDEQQLRRQEGQQQLRQERDRKFREDEQLLQEREEQQLHRQERDRKFLEEEPQLRRQEREQQLRHDRDRKFREEEQLLQEGEEQQLRRQE
RDRKFREEEQQLRRQERERKFLQEEQQLRRQELERKFREEEQLRQETEQEQLRRQERYRKILEEEQLRPEREEQQLRRQERDRKFREEEQ
LRQEREEQQLRSQESDRKFREEEQLRQEREEQQLRPQQRDGKYRWEEEQLQLEEQEQRLRQERDRQYRAEEQFATQEKSRREEQELWQEE

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

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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/chr5:149786715/chr1:152084789)
- 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
CD74

P04233

.
FUNCTION: Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF.; FUNCTION: [Class-II-associated invariant chain peptide]: Binds to the peptide-binding site of MHC class II alpha/beta heterodimers forming an alpha-beta-CLIP complex, thereby preventing the loading of antigenic peptides to the MHC class II complex until its release by HLA-DM in the endosome. {ECO:0000269|PubMed:1448172}.; FUNCTION: [Isoform p41]: Stabilizes the conformation of mature CTSL by binding to its active site and serving as a chaperone to help maintain a pool of mature enzyme in endocytic compartments and extracellular space of antigen-presenting cells (APCs). Has antiviral activity by stymieing the endosomal entry of Ebola virus and coronaviruses, including SARS-CoV-2 (PubMed:32855215). Disrupts cathepsin-mediated Ebola virus glycoprotein processing, which prevents viral fusion and entry. This antiviral activity is specific to p41 isoform (PubMed:32855215). {ECO:0000250|UniProtKB:P04441, ECO:0000269|PubMed:32855215}.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCD74chr5:149786715chr1:152084789ENST00000009530-291_4699.33333333333333297.0Topological domainCytoplasmic
HgeneCD74chr5:149786715chr1:152084789ENST00000353334-281_4699.33333333333333233.0Topological domainCytoplasmic
HgeneCD74chr5:149786715chr1:152084789ENST00000377795-261_4699.33333333333333280.6666666666667Topological domainCytoplasmic
HgeneCD74chr5:149786715chr1:152084789ENST00000009530-2947_7299.33333333333333297.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneCD74chr5:149786715chr1:152084789ENST00000353334-2847_7299.33333333333333233.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneCD74chr5:149786715chr1:152084789ENST00000377795-2647_7299.33333333333333280.6666666666667TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneTCHHchr5:149786715chr1:152084789ENST000003688040222_330.01944.0Calcium binding1%3B low affinity
TgeneTCHHchr5:149786715chr1:152084789ENST000003688040262_730.01944.0Calcium binding2%3B high affinity
TgeneTCHHchr5:149786715chr1:152084789ENST000003688040223_480.01944.0DomainEF-hand 1
TgeneTCHHchr5:149786715chr1:152084789ENST000003688040249_840.01944.0DomainEF-hand 2
TgeneTCHHchr5:149786715chr1:152084789ENST00000368804021292_18940.01944.0RegionNote=23 X 26 AA approximate tandem repeats
TgeneTCHHchr5:149786715chr1:152084789ENST00000368804021_910.01944.0RegionNote=S-100-like
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402314_3770.01944.0RegionNote=5 X 13 AA tandem repeats of R-R-E-Q-E-E-E-R-R-E-Q-Q-L
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402378_4250.01944.0RegionNote=8 X 6 AA tandem repeats of R-R-E-Q-Q-L
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402425_6830.01944.0RegionNote=9 X 28 AA approximate tandem repeats
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402906_12040.01944.0RegionNote=10 X 30 AA tandem repeats
TgeneTCHHchr5:149786715chr1:152084789ENST00000368804021026_10550.01944.0RepeatNote=4-5
TgeneTCHHchr5:149786715chr1:152084789ENST00000368804021056_10850.01944.0RepeatNote=4-6
TgeneTCHHchr5:149786715chr1:152084789ENST00000368804021086_11150.01944.0RepeatNote=4-7
TgeneTCHHchr5:149786715chr1:152084789ENST00000368804021116_11450.01944.0RepeatNote=4-8
TgeneTCHHchr5:149786715chr1:152084789ENST00000368804021146_11750.01944.0RepeatNote=4-9
TgeneTCHHchr5:149786715chr1:152084789ENST00000368804021176_12040.01944.0RepeatNote=4-10
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402314_3260.01944.0RepeatNote=1-1%3B approximate
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402327_3390.01944.0RepeatNote=1-2%3B approximate
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402340_3510.01944.0RepeatNote=1-3%3B approximate
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402352_3640.01944.0RepeatNote=1-4
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402365_3770.01944.0RepeatNote=1-5
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402378_3830.01944.0RepeatNote=2-1
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402384_3890.01944.0RepeatNote=2-2
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402390_3950.01944.0RepeatNote=2-3
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402396_4010.01944.0RepeatNote=2-4
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402402_4070.01944.0RepeatNote=2-5
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402408_4130.01944.0RepeatNote=2-6
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402414_4190.01944.0RepeatNote=2-7
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402420_4250.01944.0RepeatNote=2-8
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402906_9350.01944.0RepeatNote=4-1
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402936_9650.01944.0RepeatNote=4-2
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402966_9950.01944.0RepeatNote=4-3
TgeneTCHHchr5:149786715chr1:152084789ENST0000036880402996_10250.01944.0RepeatNote=4-4

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCD74chr5:149786715chr1:152084789ENST00000009530-29210_27199.33333333333333297.0DomainThyroglobulin type-1
HgeneCD74chr5:149786715chr1:152084789ENST00000353334-28210_27199.33333333333333233.0DomainThyroglobulin type-1
HgeneCD74chr5:149786715chr1:152084789ENST00000377795-26210_27199.33333333333333280.6666666666667DomainThyroglobulin type-1
HgeneCD74chr5:149786715chr1:152084789ENST00000009530-2973_29699.33333333333333297.0Topological domainExtracellular
HgeneCD74chr5:149786715chr1:152084789ENST00000353334-2873_29699.33333333333333233.0Topological domainExtracellular
HgeneCD74chr5:149786715chr1:152084789ENST00000377795-2673_29699.33333333333333280.6666666666667Topological domainExtracellular


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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
CD74MIF, CD74, APP, HADHA, LAMTOR5, MAP3K1, TM4SF20, COPG1, COPG2, HLA-DPB1, HLA-DQA1, nef, CD44, AKAP8, ANKRD28, AP3D1, ARCN1, ASCC1, ASCC3, ASNS, CANX, CHAF1B, COPA, COPB1, COPB2, COPE, DDX60, DGKE, DNAJB11, DNAJB12, EIF1, EIF2B3, EIF2B4, EIF2B5, EIF2S1, EIF2S3, EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L, EIF3M, EIF4A1, EIF4G1, EIF4G2, FKBP8, GANAB, GEMIN4, GRAMD1A, GTF2I, GTF3C1, HADHB, HMOX2, HUWE1, IPO13, IQGAP2, KPNB1, KRT1, LTN1, MAP1B, MTOR, NCAPD2, NCAPD3, NCAPH, OSBPL8, PCNA, PDAP1, PDCD4, PGRMC1, PGRMC2, PHB, POLR2E, POLR3A, POLR3B, PPP6R1, PPP6R3, PRRC2A, PRRC2B, PRRC2C, PSMC2, PSMD3, PSMD6, RCN1, RHOT2, RWDD1, SGPL1, SNRPE, SRP9, TBRG4, TJP2, TPP2, TUBA1A, TUBA1C, UBE3C, UBR4, UBR5, VDAC1, VWA8, YWHAB, YWHAE, YWHAQ, YWHAZ, IFITM3, FDFT1, POMGNT1, BET1, TMEM97, UPK2, TEX11, SERP1, SLC35B1, SEC22A, PLP1, TMEM254, C14orf1, TMEM243, TMEM60, FXYD6, CMTM7, CLDN19, LPAR3, CLEC7A, EDDM3B, C14orf180, PTCH1, TMEM120B, RTP2, PPAPDC1A, PGA4, SMIM1, CUL7, CCR1, ROPN1L, HLA-DRB3, HLA-DRB1, HLA-DRA,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CD74all structure
TCHH


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


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Related Drugs to CD74-TCHH


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

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Related Diseases to CD74-TCHH


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
HgeneCD74C0006142Malignant neoplasm of breast1CTD_human
HgeneCD74C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneCD74C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCD74C0162557Liver Failure, Acute1CTD_human
HgeneCD74C0678222Breast Carcinoma1CTD_human
HgeneCD74C1257931Mammary Neoplasms, Human1CTD_human
HgeneCD74C1458155Mammary Neoplasms1CTD_human
HgeneCD74C4704874Mammary Carcinoma, Human1CTD_human