AutismKB 2.0

Annotation Detail for ILVBL


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Basic Information Top
Gene Symbol:ILVBL ( 209L8,AHAS,ILV2H,MGC1269,MGC19535 )
Gene Full Name: ilvB (bacterial acetolactate synthase)-like
Band: 19p13.12
Quick LinksEntrez ID:10994; OMIM: 605770; Uniprot ID:ILVBL_HUMAN; ENSEMBL ID: ENSG00000105135; HGNC ID: 6041
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 body8 / 70761113
blastocyst2 / 6231932
fetus26 / 56401246
neonate1 / 3109732
infant2 / 2362084
juvenile0 / 555560 
adult68 / 193912135
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor11 / 11424696
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor3 / 26384511
glioma13 / 106883121
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma33 / 71755459
non-neoplasia1 / 9725010
normal133 / 336030739
ovarian tumor4 / 7668252
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS20 / 125680159
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites5 / 40015124
bladder1 / 2975733
blood3 / 12347824
bone4 / 7165555
bone marrow0 / 488010 
brain44 / 110098939
cervix3 / 4817162
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus1 / 2020949
eye21 / 21105499
heart7 / 8962678
intestine18 / 23447276
kidney11 / 21177751
larynx0 / 241450 
liver3 / 20774314
lung15 / 33697444
lymph23 / 44270519
lymph node10 / 91610109
mammary gland4 / 15327126
mouth0 / 670520 
muscle7 / 10771564
nerve1 / 1576863
ovary6 / 10205158
pancreas15 / 21481269
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate9 / 18934547
salivary gland0 / 201550 
skin7 / 21057433
spleen3 / 5395255
stomach1 / 9661910
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202993_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.85
Adipocyte8.6
AdrenalCortex9.3
Adrenalgland10.15
Amygdala8.75
Appendix8.6
AtrioventricularNode6.95
BDCA4+_DentriticCells18.6
Bonemarrow8.55
BronchialEpithelialCells11.9
CD105+_Endothelial7.8
CD14+_Monocytes9.2
CD19+_BCells(neg._sel.)10.65
CD33+_Myeloid10.2
CD34+34.8
CD4+_Tcells19.15
CD56+_NKCells14.95
CD71+_EarlyErythroid8.05
CD8+_Tcells10.6
CardiacMyocytes21.75
Caudatenucleus7.55
Cerebellum6.9
CerebellumPeduncles9.9
CiliaryGanglion7.05
CingulateCortex8.8
Colorectaladenocarcinoma11.5
DorsalRootGanglion7.1
FetalThyroid9.9
Fetalbrain8.2
Fetalliver7.4
Fetallung5.85
GlobusPallidus5.9
Heart151.55
Hypothalamus13.15
Kidney14.85
Leukemia_chronicMyelogenousK-5627.45
Leukemia_promyelocytic-HL-607.5
Leukemialymphoblastic(MOLT-4)7.35
Liver163.1
Lung9.8
Lymphnode5.65
Lymphoma_burkitts(Daudi)8.7
Lymphoma_burkitts(Raji)12.2
MedullaOblongata7.25
OccipitalLobe7.05
OlfactoryBulb6.5
Ovary5.7
Pancreas7.1
PancreaticIslet8.75
ParietalLobe8.65
Pituitary12.1
Placenta61.4
Pons7.6
PrefrontalCortex11.4
Prostate15.6
Salivarygland6.65
SkeletalMuscle10.75
Skin7.5
SmoothMuscle9.35
Spinalcord9.1
SubthalamicNucleus7.8
SuperiorCervicalGanglion9.55
TemporalLobe7.8
Testis7.7
TestisGermCell7.1
TestisIntersitial7.3
TestisLeydigCell7.9
TestisSeminiferousTubule6.5
Thalamus9.7
Thymus7.6
Thyroid111.95
Tongue8.75
Tonsil8.25
Trachea6.55
TrigeminalGanglion8.7
Uterus6.95
UterusCorpus7.75
WholeBlood8.2
Wholebrain22.05
colon27.6
pineal_day118.32
pineal_night104.4
retina40.675
small_intestine20.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6266_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
Amygdala5.82 ± 0.5
Basal Forebrain6.39 ± 0.25
Basal Part of Pons6.48 ± 0.58
Cerebellar Cortex6.36 ± 0.55
Cerebellar Nuclei6.62 ± 0.51
Claustrum5.65 ± 0.79
Epithalamus6.51 ± 0.58
Frontal Lobe6.47 ± 0.45
Globus Pallidus6.59 ± 0.33
Hypothalamus6.61 ± 0.3
Insula6.41 ± 0.4
Limbic Lobe6.03 ± 0.53
Mesencephalon6.21 ± 0.53
Myelencephalon6.36 ± 0.49
Occipital Lobe5.85 ± 0.43
Parietal Lobe6.26 ± 0.58
Pontine Tegmentum6.33 ± 0.45
Striatum6.31 ± 0.36
Subthalamus6.25 ± 0.92
Temporal Lobe6.4 ± 0.45
Thalamus6.61 ± 0.37
White Matter7.3 ± 0.44
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002194 21 557 577 EQVPSLGSNVACGLAYTDYHK 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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