AutismKB 2.0

Annotation Detail for MAU2


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Basic Information Top
Gene Symbol:MAU2 ( KIAA0892,MAU2L,MGC75361,SCC4,mau-2 )
Gene Full Name: MAU2 chromatid cohesion factor homolog (C. elegans)
Band: 19p13.11
Quick LinksEntrez ID:23383; OMIM: NA; Uniprot ID:SCC4_HUMAN; ENSEMBL ID: ENSG00000129933; HGNC ID: 29140
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 body4 / 7076156
blastocyst4 / 6231964
fetus32 / 56401256
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult131 / 193912167
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor23 / 119369192
germ cell tumor9 / 26384534
glioma7 / 10688365
head and neck tumor25 / 136302183
kidney tumor3 / 6895943
leukemia12 / 95842125
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal143 / 336030742
ovarian tumor4 / 7668252
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood10 / 12347880
bone3 / 7165541
bone marrow5 / 48801102
brain49 / 110098944
cervix0 / 481710 
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye15 / 21105471
heart6 / 8962666
intestine11 / 23447246
kidney8 / 21177737
larynx21 / 24145869
liver1 / 2077434
lung14 / 33697441
lymph0 / 442700 
lymph node9 / 9161098
mammary gland3 / 15327119
mouth3 / 6705244
muscle2 / 10771518
nerve0 / 157680 
ovary6 / 10205158
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta11 / 28082539
prostate10 / 18934552
salivary gland0 / 201550 
skin9 / 21057442
spleen4 / 5395274
stomach20 / 96619206
testis34 / 330442102
thymus17 / 81131209
thyroid1 / 4747321
tonsil1 / 1699958
trachea5 / 5241395
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212505_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.85
Adipocyte11.6
AdrenalCortex11.7
Adrenalgland9.9
Amygdala12.35
Appendix15.65
AtrioventricularNode8.65
BDCA4+_DentriticCells55.4
Bonemarrow11.65
BronchialEpithelialCells11.55
CD105+_Endothelial17.75
CD14+_Monocytes12.7
CD19+_BCells(neg._sel.)25.45
CD33+_Myeloid34.65
CD34+25.65
CD4+_Tcells29.3
CD56+_NKCells28.15
CD71+_EarlyErythroid11
CD8+_Tcells45.4
CardiacMyocytes13.6
Caudatenucleus10.55
Cerebellum14.8
CerebellumPeduncles13.25
CiliaryGanglion8.3
CingulateCortex11.9
Colorectaladenocarcinoma11
DorsalRootGanglion8.85
FetalThyroid11.35
Fetalbrain11.9
Fetalliver10.05
Fetallung10.05
GlobusPallidus7.55
Heart14.75
Hypothalamus13.05
Kidney11.7
Leukemia_chronicMyelogenousK-56210.65
Leukemia_promyelocytic-HL-6010.4
Leukemialymphoblastic(MOLT-4)9.7
Liver15.15
Lung13.25
Lymphnode11.7
Lymphoma_burkitts(Daudi)14.3
Lymphoma_burkitts(Raji)15.4
MedullaOblongata10.75
OccipitalLobe9.05
OlfactoryBulb9.3
Ovary7.2
Pancreas9.35
PancreaticIslet12
ParietalLobe12.45
Pituitary13.65
Placenta15.4
Pons11.1
PrefrontalCortex15
Prostate17.2
Salivarygland9.35
SkeletalMuscle13
Skin8.9
SmoothMuscle13.2
Spinalcord12.7
SubthalamicNucleus10.65
SuperiorCervicalGanglion19.15
TemporalLobe10.05
Testis10.65
TestisGermCell14.15
TestisIntersitial9.9
TestisLeydigCell11.55
TestisSeminiferousTubule11.5
Thalamus11.35
Thymus14.45
Thyroid14.9
Tongue11.35
Tonsil10.95
Trachea9.85
TrigeminalGanglion11.35
Uterus9.8
UterusCorpus10.35
WholeBlood16.75
Wholebrain9.9
colon11.3
pineal_day18.3
pineal_night20.1
retina14.4
small_intestine10.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P8365
  • 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
Amygdala7.28 ± 0.2
Basal Forebrain7.7 ± 0.2
Basal Part of Pons7.6 ± 0.26
Cerebellar Cortex7.94 ± 0.18
Cerebellar Nuclei7.78 ± 0.26
Claustrum7.53 ± 0.49
Epithalamus7.85 ± 0.31
Frontal Lobe7.64 ± 0.35
Globus Pallidus7.98 ± 0.39
Hypothalamus7.76 ± 0.46
Insula7.64 ± 0.16
Limbic Lobe7.45 ± 0.31
Mesencephalon7.7 ± 0.4
Myelencephalon7.68 ± 0.33
Occipital Lobe7.55 ± 0.3
Parietal Lobe7.6 ± 0.28
Pontine Tegmentum7.61 ± 0.3
Striatum7.5 ± 0.29
Subthalamus7.59 ± 0.22
Temporal Lobe7.66 ± 0.25
Thalamus7.73 ± 0.27
White Matter9.04 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
9130404D08RikCBCerebellum44.17
52.81
9130404D08RikCTXCerebral cortex100
88.41
9130404D08RikHIPHippocampal region74.48
100
9130404D08RikHPFHippocampal formation80.76
94.36
9130404D08RikHYHypothalamus65.41
50.57
9130404D08RikLSXLateral septal complex100
77.1
9130404D08RikMBMidbrain65.95
57.21
9130404D08RikMYMedulla53.08
52.38
9130404D08RikOLFOlfactory bulb92.64
81.23
9130404D08RikPPons60.21
57.05
9130404D08RikPALPallidum61.46
52.53
9130404D08RikRHPRetrohippocampal region94.62
77.13
9130404D08RiksAMYStriatum-like amygdalar nuclei80.27
58.7
9130404D08RikSTRStriatum84.34
61.5
9130404D08RikSTRdStriatum dorsal region83.06
60.79
9130404D08RikSTRvStriatum ventral region84.84
59.79
9130404D08RikTHThalamus93.29
81.95
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00095836 25 107 131 FEAASLLSELYCQENSVDAAKPLLR 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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