AutismKB 2.0

Annotation Detail for ARVCF


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Basic Information Top
Gene Symbol:ARVCF ( FLJ35345 )
Gene Full Name: armadillo repeat gene deleted in velocardiofacial syndrome
Band: 22q11.21
Quick LinksEntrez ID:421; OMIM: 602269; Uniprot ID:ARVC_HUMAN; ENSEMBL ID: ENSG00000099889; HGNC ID: 728
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 
blastocyst7 / 62319112
fetus10 / 56401217
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult51 / 193912126
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma9 / 10688384
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal96 / 336030728
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor3 / 12494924
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 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain27 / 110098924
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye12 / 21105456
heart3 / 8962633
intestine6 / 23447225
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung10 / 33697429
lymph1 / 4427022
lymph node0 / 916100 
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas13 / 21481260
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate12 / 18934563
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach0 / 966190 
testis6 / 33044218
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217516_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts204.3
Adipocyte260.3
AdrenalCortex347.85
Adrenalgland192.3
Amygdala111
Appendix193.45
AtrioventricularNode367.1
BDCA4+_DentriticCells140.05
Bonemarrow230
BronchialEpithelialCells143.45
CD105+_Endothelial183
CD14+_Monocytes180.65
CD19+_BCells(neg._sel.)134.95
CD33+_Myeloid198.15
CD34+216.1
CD4+_Tcells204.05
CD56+_NKCells182.6
CD71+_EarlyErythroid332.2
CD8+_Tcells146.45
CardiacMyocytes240.6
Caudatenucleus200.7
Cerebellum226
CerebellumPeduncles554.4
CiliaryGanglion207.4
CingulateCortex238.45
Colorectaladenocarcinoma183.85
DorsalRootGanglion406.65
FetalThyroid320.5
Fetalbrain229.65
Fetalliver192.85
Fetallung156.55
GlobusPallidus526.3
Heart269.6
Hypothalamus219.4
Kidney220.45
Leukemia_chronicMyelogenousK-562265.65
Leukemia_promyelocytic-HL-60170.05
Leukemialymphoblastic(MOLT-4)199.35
Liver208.8
Lung238.2
Lymphnode220.05
Lymphoma_burkitts(Daudi)306.05
Lymphoma_burkitts(Raji)240.05
MedullaOblongata166.55
OccipitalLobe192.65
OlfactoryBulb258.1
Ovary145.5
Pancreas160.15
PancreaticIslet230.5
ParietalLobe288.35
Pituitary294.4
Placenta200.95
Pons298.15
PrefrontalCortex227.9
Prostate178.95
Salivarygland167.75
SkeletalMuscle339.9
Skin325.5
SmoothMuscle205.75
Spinalcord229.4
SubthalamicNucleus483.4
SuperiorCervicalGanglion238.55
TemporalLobe212.75
Testis183.6
TestisGermCell172.35
TestisIntersitial201.45
TestisLeydigCell264
TestisSeminiferousTubule237.55
Thalamus232.3
Thymus121.3
Thyroid295.5
Tongue278.15
Tonsil262.8
Trachea190.75
TrigeminalGanglion217.75
Uterus145.1
UterusCorpus185.35
WholeBlood147.05
Wholebrain106.6
colon48.65
pineal_day357.52
pineal_night261.64
retina217.95
small_intestine62.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P416961
  • 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
Amygdala4.35 ± 0.7
Basal Forebrain3.95 ± 0.47
Basal Part of Pons3.55 ± 0.67
Cerebellar Cortex4.89 ± 0.3
Cerebellar Nuclei3.2 ± 0.54
Claustrum3.94 ± 0.92
Epithalamus4.64 ± 0.94
Frontal Lobe4.03 ± 0.96
Globus Pallidus3.67 ± 0.9
Hypothalamus4.24 ± 1.01
Insula4.3 ± 0.94
Limbic Lobe4.08 ± 0.89
Mesencephalon4.07 ± 0.78
Myelencephalon3.96 ± 0.96
Occipital Lobe3.98 ± 0.98
Parietal Lobe3.98 ± 0.79
Pontine Tegmentum4.13 ± 0.72
Striatum3.23 ± 0.83
Subthalamus3.34 ± 0.94
Temporal Lobe3.88 ± 0.94
Thalamus4.06 ± 0.8
White Matter2.69 ± 1.07
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ArvcfCBCerebellum1.68
2.2
ArvcfCTXCerebral cortex5.92
2.63
ArvcfHIPHippocampal region3.58
2.38
ArvcfHPFHippocampal formation2.89
1.61
ArvcfHYHypothalamus2.99
1.05
ArvcfLSXLateral septal complex1.41
1.68
ArvcfMBMidbrain1.32
0.88
ArvcfMYMedulla6.9
5.85
ArvcfOLFOlfactory bulb14.16
7.46
ArvcfPPons3.15
1.83
ArvcfPALPallidum1.94
0.82
ArvcfRHPRetrohippocampal region1.66
0.49
ArvcfsAMYStriatum-like amygdalar nuclei0.91
0.72
ArvcfSTRStriatum0.92
0.65
ArvcfSTRdStriatum dorsal region0.76
0.5
ArvcfSTRvStriatum ventral region0.85
0.41
ArvcfTHThalamus4.34
1.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039376 19 215 233 AGPLGPGPGDGCFTLPGHR 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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