AutismKB 2.0

Annotation Detail for APBB1IP


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Basic Information Top
Gene Symbol:APBB1IP ( INAG1,PREL1,RARP1,RIAM )
Gene Full Name: amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein
Band: 10p12.1
Quick LinksEntrez ID:54518; OMIM: 609036; Uniprot ID:AB1IP_HUMAN; ENSEMBL ID: ENSG00000077420; HGNC ID: 17379
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult22 / 193912111
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 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia9 / 9584293
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma7 / 7175597
non-neoplasia0 / 972500 
normal53 / 336030715
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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 tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow8 / 48801163
brain8 / 11009897
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine3 / 23447212
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph3 / 4427067
lymph node7 / 9161076
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen3 / 5395255
stomach0 / 966190 
testis0 / 3304420 
thymus16 / 81131197
thyroid0 / 474730 
tonsil3 / 16999176
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219994_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.8
Adipocyte12.45
AdrenalCortex11.65
Adrenalgland8.2
Amygdala8.6
Appendix10.65
AtrioventricularNode9.8
BDCA4+_DentriticCells21.35
Bonemarrow10.05
BronchialEpithelialCells8.45
CD105+_Endothelial8.7
CD14+_Monocytes15.05
CD19+_BCells(neg._sel.)9.25
CD33+_Myeloid20.2
CD34+10.35
CD4+_Tcells19.2
CD56+_NKCells9.75
CD71+_EarlyErythroid10.15
CD8+_Tcells22.95
CardiacMyocytes14.65
Caudatenucleus8
Cerebellum7.5
CerebellumPeduncles11
CiliaryGanglion8.7
CingulateCortex9.5
Colorectaladenocarcinoma8.95
DorsalRootGanglion9.65
FetalThyroid8.9
Fetalbrain8.8
Fetalliver9.55
Fetallung6.9
GlobusPallidus8.55
Heart15.25
Hypothalamus8.9
Kidney8.05
Leukemia_chronicMyelogenousK-5627.95
Leukemia_promyelocytic-HL-607.9
Leukemialymphoblastic(MOLT-4)10.7
Liver16.05
Lung12.8
Lymphnode7.6
Lymphoma_burkitts(Daudi)11.5
Lymphoma_burkitts(Raji)17.3
MedullaOblongata9.35
OccipitalLobe7.65
OlfactoryBulb6.9
Ovary6.75
Pancreas7.65
PancreaticIslet9.5
ParietalLobe10.2
Pituitary10.55
Placenta8.4
Pons9.25
PrefrontalCortex9.8
Prostate10.25
Salivarygland7.45
SkeletalMuscle14.55
Skin8.3
SmoothMuscle9.5
Spinalcord9.45
SubthalamicNucleus8.6
SuperiorCervicalGanglion14.3
TemporalLobe8.25
Testis7.35
TestisGermCell6.9
TestisIntersitial8.85
TestisLeydigCell9.05
TestisSeminiferousTubule7.6
Thalamus8.95
Thymus36.1
Thyroid10.05
Tongue11.6
Tonsil11.35
Trachea7.35
TrigeminalGanglion12.1
Uterus6.75
UterusCorpus9.4
WholeBlood111
Wholebrain7.45
colon9
pineal_day10.14
pineal_night9.96
retina10.225
small_intestine8.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P232365
  • 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
Amygdala4.68 ± 0.69
Basal Forebrain4.43 ± 0.81
Basal Part of Pons5.56 ± 0.59
Cerebellar Cortex3.92 ± 0.65
Cerebellar Nuclei5.81 ± 0.58
Claustrum4.16 ± 0.9
Epithalamus5.73 ± 0.77
Frontal Lobe4.56 ± 0.76
Globus Pallidus6.64 ± 0.39
Hypothalamus4.56 ± 1.23
Insula4.67 ± 0.67
Limbic Lobe4.39 ± 0.81
Mesencephalon4.51 ± 1.01
Myelencephalon4.64 ± 0.89
Occipital Lobe3.74 ± 0.78
Parietal Lobe4.57 ± 0.88
Pontine Tegmentum4.37 ± 0.68
Striatum5.06 ± 0.55
Subthalamus5.33 ± 0.75
Temporal Lobe4.86 ± 0.74
Thalamus4.72 ± 0.78
White Matter6.82 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Apbb1ipCBCerebellum18.68
21.45
Apbb1ipCTXCerebral cortex80.77
54.46
Apbb1ipHIPHippocampal region55.17
56.53
Apbb1ipHPFHippocampal formation73.98
63.99
Apbb1ipHYHypothalamus25.75
15.79
Apbb1ipLSXLateral septal complex16.86
10.31
Apbb1ipMBMidbrain22.45
16.26
Apbb1ipMYMedulla17.71
16.69
Apbb1ipOLFOlfactory bulb48.56
36.53
Apbb1ipPPons20.92
17.59
Apbb1ipPALPallidum36.69
28.2
Apbb1ipRHPRetrohippocampal region100
77.15
Apbb1ipsAMYStriatum-like amygdalar nuclei54.19
31.91
Apbb1ipSTRStriatum40.64
25.16
Apbb1ipSTRdStriatum dorsal region42.08
26.12
Apbb1ipSTRvStriatum ventral region37.51
24.25
Apbb1ipTHThalamus62.13
42.95
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AB1IP_HUMAN_201 9 201 209 DVLDNLFEK PRIDE
AB1IP_HUMAN_232 17 232 248 FFEDHENVVEVLSDWTR PRIDE
PAp00037336 24 633 656 RQENPGHPGGAGGGEQDFMSDLMK 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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