Property Summary

NCBI Gene PubMed Count 7
PubMed Score 4.76
PubTator Score 2.01

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
medulloblastoma 1524 4.59576040554175E-8
atypical teratoid / rhabdoid tumor 4369 6.99914253549583E-8
medulloblastoma, large-cell 6234 8.11303373983495E-7
malignant mesothelioma 3163 4.70392396384731E-6
osteosarcoma 7933 3.04966432084023E-5
glioblastoma 5572 3.72733504161242E-5
primitive neuroectodermal tumor 3031 3.88003172902032E-4
ovarian cancer 8492 6.10596700107848E-4
adult high grade glioma 2148 0.00233701795626973
subependymal giant cell astrocytoma 2287 0.0236802223656857
astrocytic glioma 2241 0.0324195402552194
oligodendroglioma 2849 0.0350577171294488
colon cancer 1475 0.0411135220610939
ependymoma 2514 0.0440634742879923
Disease Target Count Z-score Confidence
Neurodegenerative disease 383 0.0 4.0
hereditary spastic paraplegia 313 0.0 4.0
Disease Target Count
hereditary spastic paraplegia 52 1

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

  Ortholog (13)

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.