Property Summary

NCBI Gene PubMed Count 10
PubMed Score 14.71
PubTator Score 4.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
gastric cancer 1.100 0.005
pancreatic cancer 1.100 0.008
psoriasis -3.300 0.000
osteosarcoma -2.299 0.000
tuberculosis and treatment for 6 months -1.300 0.004
lung cancer -1.100 0.001
pancreatic carcinoma 1.100 0.008
aldosterone-producing adenoma -1.034 0.006
lung adenocarcinoma -1.100 0.000

Synonym

Accession O60308 A0A024R4G3 Q5JSQ3 Q5SR24 Q5SR25 Q6PKF5 Q86W32 Q86X14 Cep104
Symbols GlyBP
ROC22
JBTS25
CFAP256
KIAA0562

Gene

Gene RIF (1)

PMID Text
26477546 Mutations in CEP104 is associated with Joubert Syndrome.

AA Sequence

MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISS      1 - 70
KIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIY     71 - 140
NQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEV    141 - 210
AQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYR    211 - 280
AEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSL    281 - 350
TISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPL    351 - 420
TEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIK    421 - 490
DIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKE    491 - 560
VKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAV    561 - 630
RIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIK    631 - 700
ALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLD    701 - 770
LHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEK    771 - 840
LANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLGSKAGSKIPTP    841 - 910
KGGLSKSSSRTYAKR                                                           911 - 925
//

Text Mined References (11)

PMID Year Title
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26420826 2015 Mammalian splicing factor SF1 interacts with SURP domains of U2 snRNP-associated proteins.
23970417 2013 Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.
22885064 2012 A Proteome-wide screen for mammalian SxIP motif-containing microtubule plus-end tracking proteins.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
More...