AutismKB 2.0

Annotation Detail for ATP6AP1L


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Basic Information Top
Gene Symbol:ATP6AP1L ( MGC138396 )
Gene Full Name: ATPase, H+ transporting, lysosomal accessory protein 1-like
Band: 5q14.2
Quick LinksEntrez ID:92270; OMIM: NA; Uniprot ID:VAS1L_HUMAN; ENSEMBL ID: ENSG00000205464; HGNC ID: 28091
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 body0 / 707610 
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult29 / 193912114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal47 / 336030713
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain9 / 11009898
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx1 / 2414541
liver0 / 2077430 
lung13 / 33697438
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate8 / 18934542
salivary gland1 / 2015549
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis5 / 33044215
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12583_PI416261804
  • 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
Amygdala2.99 ± 0.91
Basal Forebrain2.48 ± 0.4
Basal Part of Pons2.55 ± 0.79
Cerebellar Cortex2.71 ± 0.69
Cerebellar Nuclei2.56 ± 0.69
Claustrum3.12 ± 0.9
Epithalamus2.88 ± 0.66
Frontal Lobe2.49 ± 0.62
Globus Pallidus2.98 ± 0.4
Hypothalamus2.46 ± 0.57
Insula2.05 ± 0.87
Limbic Lobe2.51 ± 0.67
Mesencephalon2.68 ± 0.65
Myelencephalon2.58 ± 0.64
Occipital Lobe2.92 ± 0.56
Parietal Lobe2.64 ± 0.76
Pontine Tegmentum2.57 ± 0.7
Striatum2.36 ± 0.7
Subthalamus2.56 ± 0.85
Temporal Lobe2.53 ± 0.68
Thalamus2.51 ± 0.58
White Matter3.4 ± 0.52
Mouse Brain ISH
Peptide Top

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