Property Summary

NCBI Gene PubMed Count 6
PubMed Score 1.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (3)

Expression

  Differential Expression (1)

Disease log2 FC p
posterior fossa group B ependymoma 2.200 0.000

Synonym

Accession O95447 D3DSI0 Q3ZCT0
Symbols C21orf13

Gene

 Compartment GO Term (1)

Gene RIF (1)

PMID Text
27100087 RNA-seq evidence of biallelic expression of LCA5L and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of LCA5L is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals.

AA Sequence

MSLADLTKTNIDEHFFGVALENNRRSAACKRSPGTGDFSRNSNASNKSVDYSRSQCSCGSLSSQYDYSED      1 - 70
FLCDCSEKAINRNYLKQPVVKEKEKKKYNVSKISQSKGQKEISVEKKHTWNASLFNSQIHMIAQRRDAMA     71 - 140
HRILSARLHKIKGLKNELADMHHKLEAILTENQFLKQLQLRHLKAIGKYENSQNNLPQIMAKHQNEVKNL    141 - 210
RQLLRKSQEKERTLSRKLRETDSQLLKTKDILQALQKLSEDKNLAEREELTHKLSIITTKMDANDKKIQS    211 - 280
LEKQLRLNCRAFSRQLAIETRKTLAAQTATKTLQVEVKHLQQKLKEKDRELEIKNIYSHRILKNLHDTED    281 - 350
YPKVSSTKSVQADRKILPFTSMRHQGTQKSDVPPLTTKGKKATGNIDHKEKSTEINHEIPHCVNKLPKQE    351 - 420
DSKRKYEDLSGEEKHLEVQILLENTGRQKDKKEDQEKKNIFVKEEQELPPKIIEVIHPERESNQEDVLVR    421 - 490
EKFKRSMQRNGVDDTLGKGTAPYTKGPLRQRRHYSFTEATENLHHGLPASGGPANAGNMRYSHSTGKHLS    491 - 560
NREEMELEHSDSGYEPSFGKSSRIKVKDTTFRDKKSSLMEELFGSGYVLKTDQSSPGVAKGSEEPLQSKE    561 - 630
SHPLPPSQASTSHAFGDSKVTVVNSIKPSSPTEGKRKIII                                  631 - 670
//

Text Mined References (6)

PMID Year Title
27100087 2016 Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
25416956 2014 A proteome-scale map of the human interactome network.
17546029 2007 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
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.
10830953 2000 The DNA sequence of human chromosome 21.