Property Summary

NCBI Gene PubMed Count 8
Grant Count 5
Funding $644,911
PubMed Score 4.32
PubTator Score 18.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
posterior fossa group B ependymoma -2.700 0.000
glioblastoma -2.300 0.001
osteosarcoma 1.131 0.001
group 3 medulloblastoma -3.300 0.007
atypical teratoid / rhabdoid tumor -3.100 0.000
medulloblastoma, large-cell -2.900 0.004
primitive neuroectodermal tumor -1.900 0.039
pediatric high grade glioma -1.400 0.039
Pick disease -1.200 0.006
psoriasis -1.300 0.000

Gene RIF (1)

PMID Text
23999528 Among the genes found disrupted in this study, there is evidence suggesting that YWHAZ and also the X-linked DRP2 may be considered as novel autism candidate genes.

AA Sequence

MQPMVMQGCPYTLPRCHDWQAADQFHHSSSLRSTCPHPQVRAAVTSPAPPQDGAGVPCLSLKLLNGSVGA      1 - 70
SGPLEPPAMNLCWNEIKKKSHNLRARLEAFSDHSGKLQLPLQEIIDWLSQKDEELSAQLPLQGDVALVQQ     71 - 140
EKETHAAFMEEVKSRGPYIYSVLESAQAFLSQHPFEELEEPHSESKDTSPKQRIQNLSRFVWKQATVASE    141 - 210
LWEKLTARCVDQHRHIERTLEQLLEIQGAMEELSTTLSQAEGVRATWEPIGDLFIDSLPEHIQAIKLFKE    211 - 280
EFSPMKDGVKLVNDLAHQLAISDVHLSMENSQALEQINVRWKQLQASVSERLKQLQDAHRDFGPGSQHFL    281 - 350
SSSVQVPWERAISPNKVPYYINHQAQTTCWDHPKMTELYQTLADLNNIKFSAYRTAMKLRRVQKALRLDL    351 - 420
VTLTTALEIFNEHDLQASEHVMDVVEVIHCLTALYERLEEERGILVNVPLCVDMSLNWLLNVFDSGRSGK    421 - 490
MRALSFKTGIACLCGTEVKEKLQYLFSQVANSGSQCDQRHLGVLLHEAIQVPRQLGEVAAFGGSNVEPSV    491 - 560
RSCFRFSTGKPVIEASQFLEWVNLEPQSMVWLAVLHRVTIAEQVKHQTKCSICRQCPIKGFRYRSLKQFN    561 - 630
VDICQTCFLTGRASKGNKLHYPIMEYYTPTTSSENMRDFATTLKNKFRSKHYFSKHPQRGYLPVQSVLEA    631 - 700
DYSETPASSPMWPHADTHSRIEHFASRLAEMESQNCSFFNDSLSPDDSIDEDQYLLRHSSPITDREPAFG    701 - 770
QQAPCSVATESKGELQKILAHLEDENRILQGELRRLKWQHEEAAEAPSLADGSTEAATDHRNEELLAEAR    771 - 840
ILRQHKSRLETRMQILEDHNKQLESQLQRLRELLLQPPTESDGSGSAGSSLASSPQQSEGSHPREKGQTT    841 - 910
PDTEAADDVGSKSQDVSLCLEDIMEKLRHAFPSVRSSDVTANTLLAS                           911 - 957
//

Text Mined References (10)

PMID Year Title
23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
17851739 2007 Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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.
11430802 2001 Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy.
10767429 2000 Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex.
8640231 1996 Characterization of DRP2, a novel human dystrophin homologue.