AutismKB 2.0

Annotation Detail for AIM1L


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Basic Information Top
Gene Symbol:AIM1L ( CRYBG2,DKFZp434L1713,FLJ10040,FLJ38020 )
Gene Full Name: absent in melanoma 1-like
Band: 1p36.11
Quick LinksEntrez ID:55057; OMIM: NA; Uniprot ID:AIM1L_HUMAN; ENSEMBL ID: ENSG00000176092; HGNC ID:
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 body1 / 7076114
blastocyst0 / 623190 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult17 / 19391218
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 tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor9 / 13630266
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal31 / 33603079
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
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 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine5 / 23447221
kidney0 / 2117770 
larynx0 / 241450 
liver3 / 20774314
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth10 / 67052149
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta15 / 28082553
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220289_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.6
Adipocyte3.6
AdrenalCortex4
Adrenalgland3.05
Amygdala3.85
Appendix3.7
AtrioventricularNode2.75
BDCA4+_DentriticCells4.05
Bonemarrow3.6
BronchialEpithelialCells3.65
CD105+_Endothelial3.7
CD14+_Monocytes3.9
CD19+_BCells(neg._sel.)3.9
CD33+_Myeloid4.65
CD34+4.65
CD4+_Tcells4
CD56+_NKCells4.4
CD71+_EarlyErythroid3.45
CD8+_Tcells3.5
CardiacMyocytes4.7
Caudatenucleus3.25
Cerebellum2.9
CerebellumPeduncles4.1
CiliaryGanglion2.65
CingulateCortex3.75
Colorectaladenocarcinoma3.7
DorsalRootGanglion2.85
FetalThyroid3.55
Fetalbrain3.6
Fetalliver3.2
Fetallung3
GlobusPallidus2.7
Heart5
Hypothalamus3.9
Kidney3
Leukemia_chronicMyelogenousK-5623.3
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)2.9
Liver5
Lung3.95
Lymphnode3.05
Lymphoma_burkitts(Daudi)4.65
Lymphoma_burkitts(Raji)5.15
MedullaOblongata3.3
OccipitalLobe3.25
OlfactoryBulb2.85
Ovary2.4
Pancreas2.95
PancreaticIslet3.9
ParietalLobe3.85
Pituitary4.25
Placenta112.35
Pons3.45
PrefrontalCortex4.55
Prostate4.3
Salivarygland2.95
SkeletalMuscle4.4
Skin2.95
SmoothMuscle4.15
Spinalcord3.9
SubthalamicNucleus3.35
SuperiorCervicalGanglion4.4
TemporalLobe3.35
Testis3.1
TestisGermCell3
TestisIntersitial3.1
TestisLeydigCell3.6
TestisSeminiferousTubule3.1
Thalamus3.7
Thymus2.85
Thyroid4.6
Tongue5.3
Tonsil3.55
Trachea3
TrigeminalGanglion3.85
Uterus3.05
UterusCorpus3.25
WholeBlood4
Wholebrain3
colon3.7
pineal_day4.6
pineal_night4.48
retina4.425
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P68358
  • 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
Amygdala2.67 ± 1.03
Basal Forebrain2.14 ± 0.38
Basal Part of Pons2.16 ± 0.96
Cerebellar Cortex2.28 ± 0.96
Cerebellar Nuclei2.6 ± 0.62
Claustrum3.4 ± 1.15
Epithalamus2.29 ± 0.87
Frontal Lobe2.23 ± 0.9
Globus Pallidus3.19 ± 0.56
Hypothalamus2.18 ± 0.92
Insula2.23 ± 0.79
Limbic Lobe2.58 ± 1.02
Mesencephalon2.51 ± 0.96
Myelencephalon2.54 ± 0.96
Occipital Lobe2.68 ± 1.21
Parietal Lobe2.61 ± 1.08
Pontine Tegmentum2.49 ± 0.87
Striatum2.82 ± 0.96
Subthalamus3.32 ± 1.96
Temporal Lobe2.4 ± 1
Thalamus2.39 ± 0.79
White Matter2.26 ± 0.8
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aim1lCBCerebellum9.99
12.65
Aim1lCTXCerebral cortex7.01
5.16
Aim1lHIPHippocampal region5.7
5.5
Aim1lHPFHippocampal formation6.34
5.33
Aim1lHYHypothalamus8.62
6.94
Aim1lLSXLateral septal complex3.01
2.03
Aim1lMBMidbrain9.94
9.41
Aim1lMYMedulla10.53
10.36
Aim1lOLFOlfactory bulb8.81
6.53
Aim1lPPons10.92
10.56
Aim1lPALPallidum4.79
4.3
Aim1lRHPRetrohippocampal region7.53
5.18
Aim1lsAMYStriatum-like amygdalar nuclei3.09
1.97
Aim1lSTRStriatum3.39
2.53
Aim1lSTRdStriatum dorsal region3.8
2.91
Aim1lSTRvStriatum ventral region2.14
1.61
Aim1lTHThalamus7.99
6.66
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00430810 23 253 275 DIYNLQQPEDSQSPHLASVGSLR 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