AutismKB 2.0

Annotation Detail for MCCC2


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Basic Information Top
Gene Symbol:MCCC2 ( MCCB )
Gene Full Name: methylcrotonoyl-CoA carboxylase 2 (beta)
Band: 5q13.2
Quick LinksEntrez ID:64087; OMIM: 609014; Uniprot ID:MCCB_HUMAN; ENSEMBL ID: ENSG00000131844; HGNC ID: 6937
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 body5 / 7076170
blastocyst4 / 6231964
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult106 / 193912154
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor11 / 94178116
cervical tumor4 / 34366116
chondrosarcoma3 / 8282336
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma5 / 10688346
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal67 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer23 / 102680223
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder3 / 29757100
blood1 / 1234788
bone6 / 7165583
bone marrow0 / 488010 
brain15 / 110098913
cervix4 / 4817183
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine11 / 23447246
kidney5 / 21177723
larynx0 / 241450 
liver5 / 20774324
lung9 / 33697426
lymph2 / 4427045
lymph node3 / 9161032
mammary gland13 / 15327184
mouth1 / 6705214
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate31 / 189345163
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach5 / 9661951
testis1 / 3304423
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209623_at
Cell line Expression level Expression bar
721_B_lymphoblasts309.2
Adipocyte9.95
AdrenalCortex5.95
Adrenalgland9.8
Amygdala6.2
Appendix5.8
AtrioventricularNode4.3
BDCA4+_DentriticCells17
Bonemarrow5.7
BronchialEpithelialCells5.85
CD105+_Endothelial6.75
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)8.55
CD33+_Myeloid7.6
CD34+27.1
CD4+_Tcells6.75
CD56+_NKCells7.2
CD71+_EarlyErythroid2.45
CD8+_Tcells7.45
CardiacMyocytes6.95
Caudatenucleus5.25
Cerebellum4.75
CerebellumPeduncles5.6
CiliaryGanglion3.95
CingulateCortex5.95
Colorectaladenocarcinoma7.15
DorsalRootGanglion4.4
FetalThyroid6.5
Fetalbrain5.9
Fetalliver6.05
Fetallung5.85
GlobusPallidus4.15
Heart7.3
Hypothalamus7.85
Kidney16.25
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-6036.8
Leukemialymphoblastic(MOLT-4)4.6
Liver7.8
Lung6.55
Lymphnode5.8
Lymphoma_burkitts(Daudi)33.8
Lymphoma_burkitts(Raji)11.3
MedullaOblongata5.3
OccipitalLobe5.1
OlfactoryBulb4.65
Ovary3.8
Pancreas8.55
PancreaticIslet6.3
ParietalLobe6
Pituitary7.15
Placenta6.45
Pons5.45
PrefrontalCortex7.45
Prostate9.75
Salivarygland9.5
SkeletalMuscle6.4
Skin4.4
SmoothMuscle6.55
Spinalcord7.35
SubthalamicNucleus5.15
SuperiorCervicalGanglion6.45
TemporalLobe5.25
Testis5.05
TestisGermCell4.95
TestisIntersitial4.9
TestisLeydigCell5.75
TestisSeminiferousTubule5.05
Thalamus5.95
Thymus4.7
Thyroid18.8
Tongue5.6
Tonsil6.65
Trachea6.45
TrigeminalGanglion5.65
Uterus4.65
UterusCorpus5.2
WholeBlood6.35
Wholebrain4.75
colon5.95
pineal_day7.64
pineal_night7.76
retina7.15
small_intestine6.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8223_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
Amygdala4.2 ± 0.5
Basal Forebrain4.04 ± 0.29
Basal Part of Pons3.29 ± 0.29
Cerebellar Cortex3.57 ± 0.45
Cerebellar Nuclei3.52 ± 0.65
Claustrum3.68 ± 0.67
Epithalamus4.19 ± 0.45
Frontal Lobe3.69 ± 0.55
Globus Pallidus4.41 ± 0.44
Hypothalamus3.72 ± 0.66
Insula3.41 ± 0.48
Limbic Lobe3.78 ± 0.48
Mesencephalon3.78 ± 0.52
Myelencephalon3.79 ± 0.54
Occipital Lobe3.84 ± 0.47
Parietal Lobe3.72 ± 0.53
Pontine Tegmentum3.77 ± 0.58
Striatum4.09 ± 0.51
Subthalamus3.36 ± 0.02
Temporal Lobe3.72 ± 0.51
Thalamus3.91 ± 0.57
White Matter4.22 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mccc2CBCerebellum36.09
63.58
Mccc2CTXCerebral cortex66.62
52.92
Mccc2HIPHippocampal region46.25
67.96
Mccc2HPFHippocampal formation49.26
58.28
Mccc2HYHypothalamus44.7
38.79
Mccc2LSXLateral septal complex24.58
18.94
Mccc2MBMidbrain25.85
27.04
Mccc2MYMedulla31.24
44.72
Mccc2OLFOlfactory bulb60.41
51.94
Mccc2PPons28.56
36.55
Mccc2PALPallidum42.17
38.45
Mccc2RHPRetrohippocampal region55.09
44.66
Mccc2sAMYStriatum-like amygdalar nuclei44.57
32.17
Mccc2STRStriatum70.37
51.41
Mccc2STRdStriatum dorsal region69.24
50.25
Mccc2STRvStriatum ventral region100
74.24
Mccc2THThalamus64.18
58.77
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MCCB_HUMAN_156 9 156 164 AQEIAMQNR PRIDE
MCCB_HUMAN_394 17 394 410 NIPLLFLQNITGFMVGR PRIDE
PAp00000186 20 249 268 AATGEEVSAEDLGGADLHCR 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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