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 4.7e-06
astrocytic glioma -1.200 3.2e-02
ependymoma -1.400 4.4e-02
oligodendroglioma -1.200 3.5e-02
osteosarcoma -1.304 3.0e-05
glioblastoma -1.700 3.7e-05
atypical teratoid / rhabdoid tumor -1.800 7.0e-08
medulloblastoma -1.600 4.6e-08
medulloblastoma, large-cell -2.100 8.1e-07
primitive neuroectodermal tumor -1.300 3.9e-04
colon cancer -1.300 4.1e-02
adult high grade glioma -1.300 2.3e-03
subependymal giant cell astrocytoma -1.155 2.4e-02
ovarian cancer -1.100 6.1e-04

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.