Property Summary

NCBI Gene PubMed Count 3
PubMed Score 1.00
PubTator Score 1.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
ovarian cancer 8492 1.97934655066842E-5
interstitial cystitis 2299 2.10680781504663E-5
Breast cancer 3099 1.55766358214021E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 8.7648387803982E-4
urothelial carcinoma 318 0.046224845768684
Disease Target Count Z-score Confidence
Wolf-Hirschhorn syndrome 32 4.614 2.3

Expression

  Differential Expression (5)

Disease log2 FC p
urothelial carcinoma 1.200 0.046
intraductal papillary-mucinous adenoma (... -1.700 0.001
interstitial cystitis 1.500 0.000
Breast cancer 1.200 0.000
ovarian cancer 2.300 0.000

Synonym

Accession Q5BLP8 B6ZDN0 B7ZBI7 B7ZBI8 X6RBU3
Symbols CHR4_55

Gene

  Ortholog (6)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse EggNOG Inparanoid
Rat EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG

Gene RIF (1)

PMID Text
21287218 C4Orf48 probably encodes a novel neuropeptide, which, if hemizygously deleted, may be involved in the observed intellectual and fine motor disabilities and thus in the overall neurological aspects of Wolf-Hirschhorn syndrome.

AA Sequence

MAPPPACRSPMSPPPPPLLLLLLSLALLGARARAEPAGSAVPAQSRPCVDCHAFEFMQRALQDLRKTACS      1 - 70
LDARTETLLLQAERRALCACWPAGH                                                  71 - 95
//

Text Mined References (5)

PMID Year Title
21287218 2011 C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15809229 2005 Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed 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.