Property Summary

NCBI Gene PubMed Count 11
PubMed Score 40.62
PubTator Score 3.73

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count
Intellectual disability 573
Disease Target Count P-value
ovarian cancer 8491 2.3e-07
Pick disease 1893 3.2e-06
psoriasis 6685 9.1e-05
osteosarcoma 7933 1.6e-04
group 3 medulloblastoma 2254 1.6e-03
Multiple myeloma 1327 1.5e-02

Expression

  Differential Expression (6)

Disease log2 FC p
Multiple myeloma 1.009 1.5e-02
psoriasis 1.800 9.1e-05
osteosarcoma -1.501 1.6e-04
group 3 medulloblastoma 1.100 1.6e-03
Pick disease -1.500 3.2e-06
ovarian cancer 1.400 2.3e-07

Gene RIF (1)

PMID Text
26308914 a missense variant was found in GRM1 gene, while in the second family, a frameshift alteration was identified in TRMT1, both of which were found to co-segregate with the intellectual disability.

AA Sequence

MQGSSLWLSLTFRSARVLSRARFFEWQSPGLPNTAAMENGTGPYGEERPREVQETTVTEGAAKIAFPSAN      1 - 70
EVFYNPVQEFNRDLTCAVITEFARIQLGAKGIQIKVPGEKDTQKVVVDLSEQEEEKVELKESENLASGDQ     71 - 140
PRTAAVGEICEEGLHVLEGLAASGLRSIRFALEVPGLRSVVANDASTRAVDLIRRNVQLNDVAHLVQPSQ    141 - 210
ADARMLMYQHQRVSERFDVIDLDPYGSPATFLDAAVQAVSEGGLLCVTCTDMAVLAGNSGETCYSKYGAM    211 - 280
ALKSRACHEMALRIVLHSLDLRANCYQRFVVPLLSISADFYVRVFVRVFTGQAKVKASASKQALVFQCVG    281 - 350
CGAFHLQRLGKASGVPSGRAKFSAACGPPVTPECEHCGQRHQLGGPMWAEPIHDLDFVGRVLEAVSANPG    351 - 420
RFHTSERIRGVLSVITEELPDVPLYYTLDQLSSTIHCNTPSLLQLRSALLHADFRVSLSHACKNAVKTDA    421 - 490
PASALWDIMRCWEKECPVKRERLSETSPAFRILSVEPRLQANFTIREDANPSSRQRGLKRFQANPEANWG    491 - 560
PRPRARPGGKAADEAMEERRRLLQNKRKEPPEDVAQRAARLKTFPCKRFKEGTCQRGDQCCYSHSPPTPR    561 - 630
VSADAAPDCPETSNQTPPGPGAAAGPGID                                             631 - 659
//

Text Mined References (16)

PMID Year Title
26308914 2015 The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
25416956 2014 A proteome-scale map of the human interactome network.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21269460 2011 Initial characterization of the human central proteome.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10982862 2000 The human tRNA(m(2)(2)G(26))dimethyltransferase: functional expression and characterization of a cloned hTRM1 gene.