Property Summary

NCBI Gene PubMed Count 10
PubMed Score 6.04
PubTator Score 4.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
posterior fossa group B ependymoma 2.400 0.000
medulloblastoma -1.500 0.000
medulloblastoma, large-cell -1.400 0.002
nasopharyngeal carcinoma -2.000 0.000

Synonym

Accession Q9H1X1 A8K5T4 Q96NH9
Symbols CILD12
C6orf206
MRPS18AL1

Gene

Gene RIF (2)

PMID Text
22448264 Mutations in RSPH9 leads to ultrastructural cilia defects and ciliary dyskinesia.
20070851 Study focused on an extended 5 generation Bedouin family, analysed mutation segregation, and calculated the age of the mutated allele in 2 families based on haplotypes and haplotype+microsatellite in an attempt to define the source of the mutation.

AA Sequence

MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAP      1 - 70
RKTLYSLNCTEWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRL     71 - 140
VSVIDQIDKAVAIIPRGALFKTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPS    141 - 210
LDFMDSLEHDIPKGSWSIQMERGNALVVLRSLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML        211 - 276
//

Text Mined References (9)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
22448264 2012 Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
20070851 2010 Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.
19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.