TAR syndrome (Homo sapiens)

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261429339, 1711, 339, 172935, 3611, 336, 1530261939203, 8, 10, 22, 2511, 3328, 10, 25131, 4242824248, 10, 12, 253711, 335322312, 312730235, 1824147266, 159, 179, 17384011, 33Voltage dependent anion channel required foracidification and functions of the Golgi apparatusthat may function in counter-ion conductance Formation of proapoptotic isoformsIn activated NK cellsPeroxisome proliferation/divisionchr1:145,807,817Required for pre-mRNA as component of the splicosomeprobably non-functionalpseudogeneIn response to sensing of non-self RNAStabilizingExon junction complex disassembly in the cytoplasm and translation enhancement of exon junction complex bearing spliced mRNAFunction unknownProbably involved in hydrolysis of nucleoside diphosphate derivativesTumour cell growthchr1:145,394,955Maturation of NK cellsProduction of anti-microbial proteinsand inflammatory cytokinesSteroid hormone signallingTraps exon junction complexonto spliced mRNASplicing modulationDNAPEX19Interferon Type I (α/β/δ...)POLR3CFURINMETNUDT17PI3KCCAR2PDZK1IP1SUMO2HLA-GPEX11BJAK/STAT pathwayLIX1LBCL2L13DNM1CD160POLR3GLANKRD34ADDIT4GPR89APOLR3GEGFRHLA-AANKRD35Costimulation by the CD28 familySTAT3SLC9A3R1SLKCFTRZFHX3FLT3PIAS3LCKITGA10ITGB1AKAP10CLCN3MAGOHIFNGNonsense-Mediated DecayHLA-BDNATCR signalingSLC34A3UBE2IRBM8ACollagenHAMPFARP2Iron uptake and transportGNRHR2DNA-directed RNA polymerase III complex, POLR3GL variantTXNMITD1CD247RNF115Pathways of nucleic acid metabolism and innate immune sensingHDAC2HJVTBPCXCR4NFKB1MTA1PYM1CD3BRF1AngiogenesisPOLR3FHLA-CEIF4A3SLC22A4RBCK1TNFRSF14POLR3CSLC22A12PDZK1TXNIPmTORC1SIRT1BMPCell cyclePI3K CascadeRBM8AMTA1SCCAR2SZFHX3CXCR4METFLT3EGFRUUUUDuring viral infectionCatalysisBindingUbiquitinatedLEGENDInhibitionSumoylatedConversionStimulationUSLIX1LSRNA3838HLA-C38HLA-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 (Complex Portal)
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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