AutismKB 2.0

Annotation Detail for APLF


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Basic Information Top
Gene Symbol:APLF ( APFL,C2orf13,FLJ16593,MGC47799,PALF,Xip1 )
Gene Full Name: aprataxin and PNKP like factor
Band: 2p13.3
Quick LinksEntrez ID:200558; OMIM: 611035; Uniprot ID:APLF_HUMAN; ENSEMBL ID: ENSG00000169621; HGNC ID: 28724
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst0 / 623190 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult25 / 193912112
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal26 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain9 / 11009898
cervix0 / 481710 
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P16339
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.53 ± 0.7
Basal Forebrain1.81 ± 0.3
Basal Part of Pons1.81 ± 0.52
Cerebellar Cortex1.65 ± 0.43
Cerebellar Nuclei2.24 ± 0.62
Claustrum2.64 ± 0.86
Epithalamus1.92 ± 0.82
Frontal Lobe2.25 ± 0.72
Globus Pallidus2.54 ± 0.68
Hypothalamus1.91 ± 0.69
Insula2.01 ± 0.79
Limbic Lobe2.51 ± 0.62
Mesencephalon2.3 ± 0.77
Myelencephalon2.3 ± 0.71
Occipital Lobe2.41 ± 0.8
Parietal Lobe2.26 ± 0.75
Pontine Tegmentum2.42 ± 0.67
Striatum3.03 ± 0.59
Subthalamus2.32 ± 0.74
Temporal Lobe2.15 ± 0.72
Thalamus2.01 ± 0.74
White Matter2.54 ± 0.53
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096167 16 54 69 IKPIHTNPCFYQSSEK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018