Property Summary

NCBI Gene PubMed Count 16
PubMed Score 11.65
PubTator Score 11.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Rheumatoid Arthritis 2.000 0.003
malignant mesothelioma 1.200 0.000
astrocytoma 1.300 0.005
ependymoma 1.300 0.039
oligodendroglioma 1.200 0.008
psoriasis -1.700 0.000
osteosarcoma -2.321 0.000
lung adenocarcinoma -1.500 0.000
Pick disease 1.300 0.000
ovarian cancer -1.300 0.000

Synonym

Accession Q71F56 A1L469 Q68DN4 Q9H8C0 Q9NSY9 Q9UFD8 Q9UPX5
Symbols MRFACD
THRAP2
TRAP240L
PROSIT240

Gene

Gene RIF (9)

PMID Text
25758992 Heterozygous MED13L variants cause transposition of the great arterie.
25712080 Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype
25249183 A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7.
25137640 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
23403903 Description of three patients with copy number changes affecting MED13L and delineation of a recognizable MED13L haploinsufficiency syndrome.
22249253 We show that the Mediator complex subunit MED13L is required for Rb/E2F control of cell growth, the complete repression of cell cycle target genes, and cell cycle inhibition.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
15145061 Transcripts were most abundant in skeletal muscle.
14638541 PROSIT240 shows significant homology to the nuclear receptor coactivator TRAP240, suggesting it to be a new component of the thyroid hormone receptor-associated protein (TRAP) complex. PROSIT240 is involved in early heart and brain development.

AA Sequence

MTAAANWVANGASLEDCHSNLFSLAELTGIKWRRYNFGGHGDCGPIISAPAQDDPILLSFIRCLQANLLC      1 - 70
VWRRDVKPDCKELWIFWWGDEPNLVGVIHHELQVVEEGLWENGLSYECRTLLFKAIHNLLERCLMDKNFV     71 - 140
RIGKWFVRPYEKDEKPVNKSEHLSCAFTFFLHGESNVCTSVEIAQHQPIYLINEEHIHMAQSSPAPFQVL    141 - 210
VSPYGLNGTLTGQAYKMSDPATRKLIEEWQYFYPMVLKKKEESKEEDELGYDDDFPVAVEVIVGGVRMVY    211 - 280
PSAFVLISQNDIPVPQSVASAGGHIAVGQQGLGSVKDPSNCGMPLTPPTSPEQAILGESGGMQSAASHLV    281 - 350
SQDGGMITMHSPKRSGKIPPKLHNHMVHRVWKECILNRTQSKRSQMSTPTLEEEPASNPATWDFVDPTQR    351 - 420
VSCSCSRHKLLKRCAVGPNRPPTVSQPGFSAGPSSSSSLPPPASSKHKTAERQEKGDKLQKRPLIPFHHR    421 - 490
PSVAEELCMEQDTPGQKLGLAGIDSSLEVSSSRKYDKQMAVPSRNTSKQMNLNPMDSPHSPISPLPPTLS    491 - 560
PQPRGQETESLDPPSVPVNPALYGNGLELQQLSTLDDRTVLVGQRLPLMAEVSETALYCGIRPSNPESSE    561 - 630
KWWHSYRLPPSDDAEFRPPELQGERCDAKMEVNSESTALQRLLAQPNKRFKIWQDKQPQLQPLHFLDPLP    631 - 700
LSQQPGDSLGEVNDPYTFEDGDIKYIFTANKKCKQGTEKDSLKKNKSEDGFGTKDVTTPGHSTPVPDGKN    701 - 770
AMSIFSSATKTDVRQDNAAGRAGSSSLTQVTDLAPSLHDLDNIFDNSDDDELGAVSPALRSSKMPAVGTE    771 - 840
DRPLGKDGRAAVPYPPTVADLQRMFPTPPSLEQHPAFSPVMNYKDGISSETVTALGMMESPMVSMVSTQL    841 - 910
TEFKMEVEDGLGSPKPEEIKDFSYVHKVPSFQPFVGSSMFAPLKMLPSHCLLPLKIPDACLFRPSWAIPP    911 - 980
KIEQLPMPPAATFIRDGYNNVPSVGSLADPDYLNTPQMNTPVTLNSAAPASNSGAGVLPSPATPRFSVPT    981 - 1050
PRTPRTPRTPRGGGTASGQGSVKYDSTDQGSPASTPSTTRPLNSVEPATMQPIPEAHSLYVTLILSDSVM   1051 - 1120
NIFKDRNFDSCCICACNMNIKGADVGLYIPDSSNEDQYRCTCGFSAIMNRKLGYNSGLFLEDELDIFGKN   1121 - 1190
SDIGQAAERRLMMCQSTFLPQVEGTKKPQEPPISLLLLLQNQHTQPFASLNFLDYISSNNRQTLPCVSWS   1191 - 1260
YDRVQADNNDYWTECFNALEQGRQYVDNPTGGKVDEALVRSATVHSWPHSNVLDISMLSSQDVVRMLLSL   1261 - 1330
QPFLQDAIQKKRTGRTWENIQHVQGPLTWQQFHKMAGRGTYGSEESPEPLPIPTLLVGYDKDFLTISPFS   1331 - 1400
LPFWERLLLDPYGGHRDVAYIVVCPENEALLEGAKTFFRDLSAVYEMCRLGQHKPICKVLRDGIMRVGKT   1401 - 1470
VAQKLTDELVSEWFNQPWSGEENDNHSRLKLYAQVCRHHLAPYLATLQLDSSLLIPPKYQTPPAAAQGQA   1471 - 1540
TPGNAGPLAPNGSAAPPAGSAFNPTSNSSSTNPAASSSASGSSVPPVSSSASAPGISQISTTSSSGFSGS   1541 - 1610
VGGQNPSTGGISADRTQGNIGCGGDTDPGQSSSQPSQDGQESVTERERIGIPTEPDSADSHAHPPAVVIY   1611 - 1680
MVDPFTYAAEEDSTSGNFWLLSLMRCYTEMLDNLPEHMRNSFILQIVPCQYMLQTMKDEQVFYIQYLKSM   1681 - 1750
AFSVYCQCRRPLPTQIHIKSLTGFGPAASIEMTLKNPERPSPIQLYSPPFILAPIKDKQTELGETFGEAS   1751 - 1820
QKYNVLFVGYCLSHDQRWLLASCTDLHGELLETCVVNIALPNRSRRSKVSARKIGLQKLWEWCIGIVQMT   1821 - 1890
SLPWRVVIGRLGRLGHGELKDWSILLGECSLQTISKKLKDVCRMCGISAADSPSILSACLVAMEPQGSFV   1891 - 1960
VMPDAVTMGSVFGRSTALNMQSSQLNTPQDASCTHILVFPTSSTIQVAPANYPNEDGFSPNNDDMFVDLP   1961 - 2030
FPDDMDNDIGILMTGNLHSSPNSSPVPSPGSPSGIGVGSHFQHSRSQGERLLSREAPEELKQQPLALGYF   2031 - 2100
VSTAKAENLPQWFWSSCPQAQNQCPLFLKASLHHHISVAQTDELLPARNSQRVPHPLDSKTTSDVLRFVL   2101 - 2170
EQYNALSWLTCNPATQDRTSCLPVHFVVLTQLYNAIMNIL                                 2171 - 2210
//

Text Mined References (26)

PMID Year Title
27365365 2016 Diverse alternative back-splicing and alternative splicing landscape of circular RNAs.
25758992 2015 Redefining the MED13L syndrome.
25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
25356899 2014 De novo mutations in moderate or severe intellectual disability.
25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.
23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
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