AutismKB 2.0

Annotation Detail for ABCA6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ABCA6 ( EST155051,FLJ43498 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 6
Band: 17q24.2-q24.3
Quick LinksEntrez ID:23460; OMIM: 612504; Uniprot ID:ABCA6_HUMAN; ENSEMBL ID: ENSG00000154262; HGNC ID: 36
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 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult19 / 19391219
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal53 / 336030715
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
blood2 / 12347816
bone0 / 716550 
bone marrow2 / 4880140
brain4 / 11009893
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver4 / 20774319
lung5 / 33697414
lymph0 / 442700 
lymph node4 / 9161043
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach1 / 9661910
testis2 / 3304426
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus6 / 23287825
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217504_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte6.65
AdrenalCortex7.85
Adrenalgland6
Amygdala6.6
Appendix11.75
AtrioventricularNode9.95
BDCA4+_DentriticCells6.9
Bonemarrow7.25
BronchialEpithelialCells6.45
CD105+_Endothelial6.9
CD14+_Monocytes7.05
CD19+_BCells(neg._sel.)6.95
CD33+_Myeloid8.15
CD34+8.1
CD4+_Tcells7.15
CD56+_NKCells7.8
CD71+_EarlyErythroid6.4
CD8+_Tcells6.2
CardiacMyocytes12.95
Caudatenucleus6
Cerebellum5.5
CerebellumPeduncles7.8
CiliaryGanglion7.2
CingulateCortex7.05
Colorectaladenocarcinoma6.6
DorsalRootGanglion9.55
FetalThyroid6.6
Fetalbrain6.45
Fetalliver7.8
Fetallung5.8
GlobusPallidus5.4
Heart9.1
Hypothalamus6.9
Kidney6
Leukemia_chronicMyelogenousK-5625.95
Leukemia_promyelocytic-HL-605.9
Leukemialymphoblastic(MOLT-4)5.25
Liver9.25
Lung7.2
Lymphnode5.6
Lymphoma_burkitts(Daudi)8.8
Lymphoma_burkitts(Raji)9.6
MedullaOblongata6.15
OccipitalLobe6
OlfactoryBulb11.3
Ovary5.6
Pancreas5.6
PancreaticIslet7.35
ParietalLobe7.5
Pituitary7.85
Placenta6.7
Pons6.6
PrefrontalCortex7.95
Prostate7.6
Salivarygland7.05
SkeletalMuscle12.45
Skin6.15
SmoothMuscle10.9
Spinalcord7.4
SubthalamicNucleus6.4
SuperiorCervicalGanglion12.95
TemporalLobe6.3
Testis5.7
TestisGermCell5.45
TestisIntersitial5.85
TestisLeydigCell6.95
TestisSeminiferousTubule7.65
Thalamus6.9
Thymus4.95
Thyroid8
Tongue7.3
Tonsil6.7
Trachea5.6
TrigeminalGanglion14.35
Uterus5.3
UterusCorpus7.25
WholeBlood7.15
Wholebrain5.45
colon6.65
pineal_day8.12
pineal_night8.16
retina8.2
small_intestine6.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15724_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
Amygdala3.88 ± 0.49
Basal Forebrain3.47 ± 0.55
Basal Part of Pons4.37 ± 0.32
Cerebellar Cortex4.02 ± 0.5
Cerebellar Nuclei4.26 ± 0.5
Claustrum3.74 ± 0.49
Epithalamus3.68 ± 0.68
Frontal Lobe3.89 ± 0.54
Globus Pallidus4.34 ± 0.8
Hypothalamus3.57 ± 0.37
Insula3.82 ± 0.59
Limbic Lobe3.94 ± 0.61
Mesencephalon4.16 ± 0.63
Myelencephalon3.98 ± 0.63
Occipital Lobe4.61 ± 0.48
Parietal Lobe4.14 ± 0.49
Pontine Tegmentum3.98 ± 0.61
Striatum3.55 ± 0.68
Subthalamus4.31 ± 0.47
Temporal Lobe3.96 ± 0.54
Thalamus4.43 ± 0.54
White Matter3.76 ± 0.82
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abca6CBCerebellum10.75
12.25
Abca6CTXCerebral cortex8.3
6.18
Abca6HIPHippocampal region5.79
5.4
Abca6HPFHippocampal formation8.86
7.68
Abca6HYHypothalamus1.76
2.51
Abca6LSXLateral septal complex0.24
0.24
Abca6MBMidbrain2.87
3.5
Abca6MYMedulla9.16
10.4
Abca6OLFOlfactory bulb15.98
13.46
Abca6PPons7.6
9.45
Abca6PALPallidum1.24
1.2
Abca6RHPRetrohippocampal region15.89
12.27
Abca6sAMYStriatum-like amygdalar nuclei1.03
0.61
Abca6STRStriatum2.84
1.97
Abca6STRdStriatum dorsal region3.26
2.35
Abca6STRvStriatum ventral region3.05
1.8
Abca6THThalamus5.26
5.59
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ABCA6_HUMAN_66 34 66 99 VDKFNSSSLMVVYTPISNLTQQIMNKTALAPLLK PRIDE

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved