TAR syndrome (Homo sapiens)

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11, 332411, 33143, 8, 10, 22, 252611, 335, 1829241929724132823392712, 3111, 338, 10, 259, 172433309, 1737261, 4326, 156, 151411, 33405209, 17235, 368, 10, 12, 25232630389, 17In activated NK cellsTraps exon junction complexonto spliced mRNAVoltage dependent anion channel required foracidification and functions of the Golgi apparatusthat may function in counter-ion conductance Formation of proapoptotic isoformsStabilizingMaturation of NK cellsFunction unknownProduction of anti-microbial proteinsand inflammatory cytokinesProbably involved in hydrolysis of nucleoside diphosphate derivativesprobably non-functionalpseudogenechr1:145,394,955Exon junction complex disassembly in the cytoplasm and translation enhancement of exon junction complex bearing spliced mRNARequired for pre-mRNA as component of the splicosomeSplicing modulationchr1:145,807,817In response to sensing of non-self RNAPeroxisome proliferation/divisionTumour cell growthSteroid hormone signallingSLC22A12EIF4A3PI3KIron uptake and transportGNRHR2POLR3CFURINBRF1MTA1RNF115Pathways of nucleic acid metabolism and innate immune sensingCostimulation by the CD28 familyDNA-directed RNA polymerase III complex, POLR3GL variantRBCK1JAK/STAT pathwayCollagenPIAS3PEX11BFLT3SLC34A3AKAP10ANKRD34ASLKRBM8ASLC9A3R1HLA-GMITD1DNAPOLR3CInterferon Type I (α/β/δ...)GPR89ACFTRZFHX3TCR signalingTBPAngiogenesisUBE2IANKRD35SIRT1METFARP2TNFRSF14DNM1HLA-BITGB1NUDT17CXCR4HDAC2DNAIFNGBCL2L13HLA-CNonsense-Mediated DecayBMPITGA10HAMPHJVPOLR3GPOLR3FCD3NFKB1PEX19POLR3GLEGFRLCKLIX1LCell cycleSTAT3CD160HLA-AMAGOHCD247TXNIPPDZK1IP1mTORC1DDIT4PI3K CascadeCLCN3PDZK1CCAR2PYM1SLC22A4TXNSUMO2RBM8AMTA1SCCAR2SZFHX3CXCR4METFLT3EGFRUUUUDuring viral infectionCatalysisBindingUbiquitinatedLEGENDInhibitionSumoylatedConversionStimulationUSLIX1LSRNA383838HLA-CHLA-EHLA-FHLA-G


Description

The TAR syndrome (Thrombocytopenia with Absent Radius) is a rare genetic disorder caused by a deletion on the chromosome 1 (GRCh37: chr1:145,394,955-145,807,817 according to Kirov et al. 2014 10.1016/j.biopsych.2013.07.022). The most notable symptoms are the absence of the radius bone, reduced platelet count and cardiac defects. Additionally, patients have an increased susceptibility for psychiatric disorders.

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Bibliography

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History

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CompareRevisionActionTimeUserComment
134655view09:21, 24 July 2024EgonwCompleted a datasource
134452view00:02, 22 July 2024EweitzOntology Term : 'disease of mental health' added !
127046view09:38, 26 July 2023FehrhartOntology Term : 'Disease' added !
127045view09:38, 26 July 2023FehrhartOntology Term : 'disease pathway' added !
127044view09:37, 26 July 2023FehrhartModified description
127043view09:30, 26 July 2023Fehrhartcorrections and updates (done)
127042view07:47, 26 July 2023Fehrhartupdate in progress
127041view06:54, 26 July 2023Fehrhartupdate in progress
127029view13:11, 24 July 2023Fehrhartupdate
127028view12:36, 24 July 2023Fehrhartupgrade
127027view12:00, 24 July 2023Fehrhartupgrade
126901view14:14, 30 June 2023JmillanacostaChanged legend interactions and nodes to graphical objects
126849view09:37, 27 June 2023Ewoud
126578view15:20, 4 June 2023Ewoudfiller
126517view15:21, 23 May 2023EwoudNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AKAP10GeneProductENSG00000108599 (Ensembl)
ANKRD34AGeneProductENSG00000181039 (Ensembl)
ANKRD35GeneProductENSG00000198483 (Ensembl)
AngiogenesisPathwayWP1539 (WikiPathways)
BCL2L13GeneProductENSG00000099968 (Ensembl)
BMPMetaboliteCHEBI:60815 (ChEBI)
BRF1GeneProductENSG00000185024 (Ensembl)
CCAR2GeneProductENSG00000158941 (Ensembl)
CD160GeneProductENSG00000117281 (Ensembl)
CD247GeneProductENSG00000198821 (Ensembl)
CD3GeneProductENSG00000167286 (Ensembl)
CFTRGeneProductENSG00000001626 (Ensembl)
CLCN3GeneProductENSG00000109572 (Ensembl)
CXCR4GeneProductENSG00000121966 (Ensembl)
Cell cyclePathwayWP179 (WikiPathways)
CollagenMetaboliteCHEBI:3815 (ChEBI)
Costimulation by the CD28 familyPathwayWP1799 (WikiPathways)
DDIT4GeneProductENSG00000168209 (Ensembl)
DNA-directed RNA polymerase III complex, POLR3GL variantComplexCPX-7482
DNAMetaboliteCHEBI:16991 (ChEBI)
DNM1GeneProductENSG00000106976 (Ensembl)
EGFRGeneProductENSG00000146648 (Ensembl)
EIF4A3GeneProductENSG00000141543 (Ensembl)
FARP2GeneProductENSG00000006607 (Ensembl)
FLT3GeneProductENSG00000122025 (Ensembl)
FURINGeneProductENSG00000140564 (Ensembl)
GNRHR2GeneProductENSG00000211451 (Ensembl)
GPR89AGeneProductENSG00000117262 (Ensembl)
HAMPGeneProductENSG00000105697 (Ensembl) Hepcidin
HDAC2GeneProductENSG00000196591 (Ensembl)
HJVGeneProductENSG00000168509 (Ensembl) HAEMOJUVELIN, HEMOJUVELIN, HFE2, HFE2A
HLA-AGeneProductENSG00000206503 (Ensembl)
HLA-BGeneProductENSG00000234745 (Ensembl)
HLA-CGeneProductENSG00000204525 (Ensembl)
HLA-EGeneProductENSG00000204592 (Ensembl)
HLA-FGeneProductENSG00000204642 (Ensembl)
HLA-GGeneProductENSG00000204632 (Ensembl)
IFNGGeneProductENSG00000111537 (Ensembl)
ITGA10GeneProductENSG00000143127 (Ensembl)
ITGB1GeneProductENSG00000150093 (Ensembl)
Interferon Type I (α/β/δ...)GeneProductPF00143 (Pfam)
Iron uptake and transportPathwayWP2670 (WikiPathways)
JAK/STAT pathwayPathwaymap04630 (KEGG Pathway)
LCKGeneProductENSG00000182866 (Ensembl)
LIX1LGeneProductENSG00000152022 (Ensembl)
MAGOHGeneProductENSG00000162385 (Ensembl)
METGeneProductENSG00000105976 (Ensembl)
MITD1GeneProductENSG00000158411 (Ensembl)
MTA1GeneProductENSG00000182979 (Ensembl)
NFKB1GeneProductENSG00000109320 (Ensembl)
NUDT17GeneProductENSG00000186364 (Ensembl)
Nonsense-Mediated DecayPathwayWP2710 (WikiPathways)
PDZK1GeneProductENSG00000174827 (Ensembl)
PDZK1IP1GeneProductENSG00000162366 (Ensembl)
PEX11BGeneProductENSG00000131779 (Ensembl)
PEX19GeneProductENSG00000162735 (Ensembl)
PI3K CascadePathwayWP4448 (WikiPathways)
PI3KGeneProductPF00454 (Pfam)
PIAS3GeneProductENSG00000131788 (Ensembl)
POLR3CGeneProductENSG00000186141 (Ensembl)
POLR3FGeneProductENSG00000132664 (Ensembl)
POLR3GGeneProductENSG00000113356 (Ensembl)
POLR3GLGeneProductENSG00000121851 (Ensembl)
PYM1GeneProductENSG00000170473 (Ensembl)
Pathways of nucleic acid metabolism and innate immune sensingPathwayWP4705 (WikiPathways)
RBCK1GeneProductENSG00000125826 (Ensembl)
RBM8AGeneProductENSG00000131795 (Ensembl)
RNAMetaboliteCHEBI:33697 (ChEBI)
RNF115GeneProductENSG00000121848 (Ensembl) BCA2, ZNF364, ring finger protein 115, ZFP364, RABRING7
SIRT1GeneProductENSG00000096717 (Ensembl)
SLC22A12GeneProductENSG00000197891 (Ensembl)
SLC22A4GeneProductENSG00000197208 (Ensembl)
SLC34A3GeneProductENSG00000198569 (Ensembl)
SLC9A3R1GeneProductENSG00000109062 (Ensembl)
SLKGeneProductENSG00000065613 (Ensembl)
STAT3GeneProductENSG00000168610 (Ensembl)
SUMO2GeneProductENSG00000188612 (Ensembl)
TBPMetaboliteCHEBI:35019 (ChEBI)
TCR signalingPathwayWP1927 (WikiPathways)
TNFRSF14GeneProductENSG00000157873 (Ensembl)
TXNGeneProductENSG00000136810 (Ensembl)
TXNIPGeneProductENSG00000117289 (Ensembl)
UBE2IGeneProductENSG00000103275 (Ensembl)
ZFHX3GeneProductENSG00000140836 (Ensembl)
mTORC1ProteinF5H479 (Uniprot-TrEMBL)

Annotated Interactions

No annotated interactions

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