AutismKB 2.0

Annotation Detail for CCM2


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Basic Information Top
Gene Symbol:CCM2 ( C7orf22,MGC4067,MGC4607,MGC74868,OSM )
Gene Full Name: cerebral cavernous malformation 2
Band: 7p13
Quick LinksEntrez ID:83605; OMIM: 607929; Uniprot ID:CCM2_HUMAN; ENSEMBL ID: ENSG00000136280; HGNC ID: 21708
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 body2 / 7076128
blastocyst3 / 6231948
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult124 / 193912163
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor10 / 26384537
glioma10 / 10688393
head and neck tumor13 / 13630295
kidney tumor10 / 68959145
leukemia13 / 95842135
liver tumor5 / 9635951
lung tumor10 / 10312796
lymphoma19 / 71755264
non-neoplasia11 / 97250113
normal187 / 336030755
ovarian tumor5 / 7668265
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer17 / 102680165
retinoblastoma0 / 463560 
skin tumor16 / 124949128
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites3 / 4001574
bladder1 / 2975733
blood30 / 123478242
bone5 / 7165569
bone marrow1 / 4880120
brain55 / 110098949
cervix4 / 4817183
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye21 / 21105499
heart4 / 8962644
intestine15 / 23447263
kidney13 / 21177761
larynx0 / 241450 
liver9 / 20774343
lung20 / 33697459
lymph13 / 44270293
lymph node10 / 91610109
mammary gland8 / 15327152
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary8 / 10205178
pancreas13 / 21481260
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta23 / 28082581
prostate25 / 189345132
salivary gland10 / 20155496
skin18 / 21057485
spleen9 / 53952166
stomach2 / 9661920
testis4 / 33044212
thymus34 / 81131419
thyroid2 / 4747342
tonsil6 / 16999352
trachea1 / 5241319
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14344_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
Amygdala5.02 ± 0.73
Basal Forebrain5.2 ± 0.68
Basal Part of Pons5.53 ± 0.75
Cerebellar Cortex5.18 ± 0.87
Cerebellar Nuclei4.71 ± 0.74
Claustrum4.26 ± 1.33
Epithalamus4.94 ± 0.95
Frontal Lobe5.54 ± 0.78
Globus Pallidus4.73 ± 0.49
Hypothalamus5.46 ± 0.42
Insula5.5 ± 0.46
Limbic Lobe4.93 ± 0.89
Mesencephalon5.15 ± 0.76
Myelencephalon5.11 ± 0.84
Occipital Lobe4.3 ± 0.99
Parietal Lobe5.22 ± 0.69
Pontine Tegmentum5.05 ± 0.8
Striatum5.16 ± 0.8
Subthalamus5.7 ± 0.47
Temporal Lobe5.35 ± 0.64
Thalamus5.25 ± 0.7
White Matter3.89 ± 0.85
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccm2CBCerebellum24.84
49.75
Ccm2CTXCerebral cortex36.78
27.65
Ccm2HIPHippocampal region27.32
29.18
Ccm2HPFHippocampal formation30.88
30.03
Ccm2HYHypothalamus22.65
19.08
Ccm2LSXLateral septal complex27.85
20.31
Ccm2MBMidbrain31.47
29.68
Ccm2MYMedulla52.44
60.36
Ccm2OLFOlfactory bulb51.33
42.14
Ccm2PPons36.51
41.26
Ccm2PALPallidum25.07
24.29
Ccm2RHPRetrohippocampal region38.86
32.91
Ccm2sAMYStriatum-like amygdalar nuclei21.11
16.25
Ccm2STRStriatum81.17
70.79
Ccm2STRdStriatum dorsal region93.32
80.98
Ccm2STRvStriatum ventral region92.18
86.46
Ccm2THThalamus61.31
61.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CCM2_HUMAN_1 19 1 19 MEEEGKKGKKPGIVSPFKR PRIDE
PAp00011619 19 157 175 TAQDPGISPSQSLCAESSR 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