AutismKB 2.0

Annotation Detail for ABI1


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Basic Information Top
Gene Symbol:ABI1 ( ABI-1,E3B1,NAP1BP,SSH3BP,SSH3BP1 )
Gene Full Name: abl-interactor 1
Band: 10p12.1
Quick LinksEntrez ID:10006; OMIM: 603050; Uniprot ID:ABI1_HUMAN; ENSEMBL ID: ENSG00000136754; HGNC ID: 11320
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 body9 / 70761127
blastocyst3 / 6231948
fetus60 / 564012106
neonate16 / 31097514
infant2 / 2362084
juvenile8 / 55556143
adult177 / 193912191
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma7 / 17475400
breast (mammary gland) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor7 / 17290404
gastrointestinal tumor16 / 119369134
germ cell tumor62 / 263845234
glioma13 / 106883121
head and neck tumor29 / 136302212
kidney tumor7 / 68959101
leukemia30 / 95842313
liver tumor8 / 9635983
lung tumor2 / 10312719
lymphoma12 / 71755167
non-neoplasia13 / 97250133
normal531 / 3360307158
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor11 / 12494988
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites6 / 40015149
bladder18 / 29757604
blood32 / 123478259
bone8 / 71655111
bone marrow21 / 48801430
brain245 / 1100989222
cervix2 / 4817141
connective tissue24 / 149255160
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus8 / 20209395
eye7 / 21105433
heart7 / 8962678
intestine31 / 234472132
kidney35 / 211777165
larynx0 / 241450 
liver14 / 20774367
lung37 / 336974109
lymph5 / 44270112
lymph node16 / 91610174
mammary gland13 / 15327184
mouth29 / 67052432
muscle5 / 10771546
nerve0 / 157680 
ovary3 / 10205129
pancreas5 / 21481223
parathyroid5 / 20539243
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta25 / 28082589
prostate12 / 18934563
salivary gland6 / 20155297
skin34 / 210574161
spleen13 / 53952240
stomach12 / 96619124
testis62 / 330442187
thymus61 / 81131751
thyroid2 / 4747342
tonsil0 / 169990 
trachea15 / 52413286
umbilical cord4 / 13680292
uterus31 / 232878133
vascular29 / 51780560
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209027_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts249.6
Adipocyte20.45
AdrenalCortex15.7
Adrenalgland11.4
Amygdala238.6
Appendix13.75
AtrioventricularNode12.35
BDCA4+_DentriticCells423.3
Bonemarrow20.55
BronchialEpithelialCells184.4
CD105+_Endothelial29.9
CD14+_Monocytes260.2
CD19+_BCells(neg._sel.)299.6
CD33+_Myeloid258.4
CD34+195.05
CD4+_Tcells305.3
CD56+_NKCells339.15
CD71+_EarlyErythroid27.4
CD8+_Tcells331.55
CardiacMyocytes26.95
Caudatenucleus33.3
Cerebellum22.35
CerebellumPeduncles43.65
CiliaryGanglion10.9
CingulateCortex25.8
Colorectaladenocarcinoma16.75
DorsalRootGanglion12.8
FetalThyroid13.4
Fetalbrain71.2
Fetalliver29.05
Fetallung59.95
GlobusPallidus19.85
Heart20.55
Hypothalamus67.45
Kidney14.25
Leukemia_chronicMyelogenousK-56215.15
Leukemia_promyelocytic-HL-60103.75
Leukemialymphoblastic(MOLT-4)43
Liver11.75
Lung16.15
Lymphnode90
Lymphoma_burkitts(Daudi)234.8
Lymphoma_burkitts(Raji)104.65
MedullaOblongata15.85
OccipitalLobe81.9
OlfactoryBulb13.3
Ovary11.9
Pancreas26.35
PancreaticIslet37.65
ParietalLobe20.6
Pituitary19.7
Placenta85
Pons15.05
PrefrontalCortex121.45
Prostate24.2
Salivarygland23.6
SkeletalMuscle15.95
Skin17.75
SmoothMuscle74
Spinalcord24.45
SubthalamicNucleus15.35
SuperiorCervicalGanglion16.3
TemporalLobe13.5
Testis10.75
TestisGermCell36.25
TestisIntersitial10.3
TestisLeydigCell10.1
TestisSeminiferousTubule7.4
Thalamus16.9
Thymus75.2
Thyroid64.55
Tongue17.65
Tonsil121.2
Trachea27.35
TrigeminalGanglion12.75
Uterus52.8
UterusCorpus17.65
WholeBlood508.05
Wholebrain108.8
colon238.3
pineal_day40.44
pineal_night56.54
retina104.5
small_intestine186.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P149844
  • 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
Amygdala5.23 ± 0.67
Basal Forebrain4.55 ± 0.37
Basal Part of Pons5.1 ± 0.36
Cerebellar Cortex5.12 ± 0.41
Cerebellar Nuclei4.42 ± 0.61
Claustrum4.67 ± 0.96
Epithalamus4.94 ± 0.13
Frontal Lobe5.31 ± 0.53
Globus Pallidus4.98 ± 0.52
Hypothalamus4.83 ± 0.26
Insula5.48 ± 0.24
Limbic Lobe5.41 ± 0.68
Mesencephalon4.87 ± 0.53
Myelencephalon5.02 ± 0.64
Occipital Lobe4.67 ± 0.58
Parietal Lobe5.11 ± 0.58
Pontine Tegmentum5.25 ± 0.62
Striatum4.96 ± 0.56
Subthalamus6.59 ± 3.36
Temporal Lobe5.24 ± 0.56
Thalamus4.85 ± 0.5
White Matter3.15 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abi1CBCerebellum37.76
55.31
Abi1CTXCerebral cortex100
100
Abi1HIPHippocampal region100
100
Abi1HPFHippocampal formation100
100
Abi1HYHypothalamus57.61
50.58
Abi1LSXLateral septal complex64.16
57.41
Abi1MBMidbrain46.66
43.78
Abi1MYMedulla40.62
45.09
Abi1OLFOlfactory bulb95.58
100
Abi1PPons46.56
49.29
Abi1PALPallidum56.74
53.39
Abi1RHPRetrohippocampal region100
100
Abi1sAMYStriatum-like amygdalar nuclei48.6
41.45
Abi1STRStriatum69.37
56.22
Abi1STRdStriatum dorsal region70.75
56.48
Abi1STRvStriatum ventral region74.94
60.76
Abi1THThalamus67.12
62.6
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ABI1_HUMAN_1 16 1 16 AELQMLLEEEIPSGKR PRIDE
ABI1_HUMAN_2 16 2 17 AELQMLLEEEIPSGKR PRIDE
PAp00010625 13 466 478 KNDDGWYEGVCNR 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


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