Property Summary

NCBI Gene PubMed Count 7
PubMed Score 4.76
PubTator Score 2.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -1.300 0.000
astrocytic glioma -1.200 0.032
ependymoma -1.400 0.044
oligodendroglioma -1.200 0.035
osteosarcoma -1.304 0.000
glioblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -1.800 0.000
medulloblastoma -1.600 0.000
medulloblastoma, large-cell -2.100 0.000
primitive neuroectodermal tumor -1.300 0.000
colon cancer -1.300 0.041
adult high grade glioma -1.300 0.002
subependymal giant cell astrocytoma -1.155 0.024
ovarian cancer -1.100 0.001

Synonym

Accession Q9Y587 G3V2N8 Q6IAQ4 Q86U36 Q9BVE7
Symbols AP47B
CLA20
CPSQ6
SPG52
CLAPS4

Gene

Gene RIF (1)

PMID Text
25552650 Premature stop mutations in AP4S1 result in loss of AP-4 complex assembly and cause fever-sensitive seizures, developmental delay and spastic paraplegia.

AA Sequence

MIKFFLMVNKQGQTRLSKYYEHVDINKRTLLETEVIKSCLSRSNEQCSFIEYKDFKLIYRQYAALFIVVG      1 - 70
VNDTENEMAIYEFIHNFVEVLDEYFSRVSELDIMFNLDKVHIILDEMVLNGCIVETNRARILAPLLILDK     71 - 140
MSES                                                                      141 - 144
//

Text Mined References (8)

PMID Year Title
25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
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.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10436028 1999 Characterization of a fourth adaptor-related protein complex.
10066790 1999 AP-4, a novel protein complex related to clathrin adaptors.