Annotation Detail for CCM2
Basic Information Top
| Gene Symbol: | CCM2 ( C7orf22,MGC4067,MGC4607,MGC74868,OSM ) |
|---|---|
| Gene Full Name: | cerebral cavernous malformation 2 |
| Band: | 7p13 |
| Quick Links | Entrez ID:83605; OMIM: 607929; Uniprot ID:CCM2_HUMAN; ENSEMBL ID: ENSG00000136280; HGNC ID: 21708 |
| Relate to Another Database: | SFARIGene; denovo-db |
- Unigene ID: Hs.148272
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
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| embryoid body | 2 / 70761 | 28 | |
| blastocyst | 3 / 62319 | 48 | |
| fetus | 20 / 564012 | 35 | |
| neonate | 0 / 31097 | 0 | |
| infant | 0 / 23620 | 0 | |
| juvenile | 1 / 55556 | 17 | |
| adult | 124 / 1939121 | 63 |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
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| adrenal tumor | 1 / 12794 | 78 | |
| bladder carcinoma | 2 / 17475 | 114 | |
| breast (mammary gland) tumor | 7 / 94178 | 74 | |
| cervical tumor | 1 / 34366 | 29 | |
| chondrosarcoma | 4 / 82823 | 48 | |
| colorectal tumor | 7 / 114246 | 61 | |
| esophageal tumor | 1 / 17290 | 57 | |
| gastrointestinal tumor | 5 / 119369 | 41 | |
| germ cell tumor | 10 / 263845 | 37 | |
| glioma | 10 / 106883 | 93 | |
| head and neck tumor | 13 / 136302 | 95 | |
| kidney tumor | 10 / 68959 | 145 | |
| leukemia | 13 / 95842 | 135 | |
| liver tumor | 5 / 96359 | 51 | |
| lung tumor | 10 / 103127 | 96 | |
| lymphoma | 19 / 71755 | 264 | |
| non-neoplasia | 11 / 97250 | 113 | |
| normal | 187 / 3360307 | 55 | |
| ovarian tumor | 5 / 76682 | 65 | |
| pancreatic tumor | 12 / 104616 | 114 | |
| primitive neuroectodermal tumor of the CNS | 14 / 125680 | 111 | |
| prostate cancer | 17 / 102680 | 165 | |
| retinoblastoma | 0 / 46356 | 0 | |
| skin tumor | 16 / 124949 | 128 | |
| soft tissue/muscle tissue tumor | 6 / 125191 | 47 | |
| uterine tumor | 7 / 90257 | 77 |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
![]() | |||
| adipose tissue | 0 / 13106 | 0 | |
| adrenal gland | 1 / 33197 | 30 | |
| ascites | 3 / 40015 | 74 | |
| bladder | 1 / 29757 | 33 | |
| blood | 30 / 123478 | 242 | |
| bone | 5 / 71655 | 69 | |
| bone marrow | 1 / 48801 | 20 | |
| brain | 55 / 1100989 | 49 | |
| cervix | 4 / 48171 | 83 | |
| connective tissue | 9 / 149255 | 60 | |
| ear | 0 / 16212 | 0 | |
| embryonic tissue | 9 / 215722 | 41 | |
| esophagus | 1 / 20209 | 49 | |
| eye | 21 / 211054 | 99 | |
| heart | 4 / 89626 | 44 | |
| intestine | 15 / 234472 | 63 | |
| kidney | 13 / 211777 | 61 | |
| larynx | 0 / 24145 | 0 | |
| liver | 9 / 207743 | 43 | |
| lung | 20 / 336974 | 59 | |
| lymph | 13 / 44270 | 293 | |
| lymph node | 10 / 91610 | 109 | |
| mammary gland | 8 / 153271 | 52 | |
| mouth | 0 / 67052 | 0 | |
| muscle | 1 / 107715 | 9 | |
| nerve | 0 / 15768 | 0 | |
| ovary | 8 / 102051 | 78 | |
| pancreas | 13 / 214812 | 60 | |
| parathyroid | 1 / 20539 | 48 | |
| pharynx | 1 / 41328 | 24 | |
| pituitary gland | 0 / 16585 | 0 | |
| placenta | 23 / 280825 | 81 | |
| prostate | 25 / 189345 | 132 | |
| salivary gland | 10 / 20155 | 496 | |
| skin | 18 / 210574 | 85 | |
| spleen | 9 / 53952 | 166 | |
| stomach | 2 / 96619 | 20 | |
| testis | 4 / 330442 | 12 | |
| thymus | 34 / 81131 | 419 | |
| thyroid | 2 / 47473 | 42 | |
| tonsil | 6 / 16999 | 352 | |
| trachea | 1 / 52413 | 19 | |
| umbilical cord | 0 / 13680 | 0 | |
| uterus | 15 / 232878 | 64 | |
| vascular | 1 / 51780 | 19 |
- 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 |
|---|---|---|
| Amygdala | 5.02 ± 0.73 | |
| Basal Forebrain | 5.2 ± 0.68 | |
| Basal Part of Pons | 5.53 ± 0.75 | |
| Cerebellar Cortex | 5.18 ± 0.87 | |
| Cerebellar Nuclei | 4.71 ± 0.74 | |
| Claustrum | 4.26 ± 1.33 | |
| Epithalamus | 4.94 ± 0.95 | |
| Frontal Lobe | 5.54 ± 0.78 | |
| Globus Pallidus | 4.73 ± 0.49 | |
| Hypothalamus | 5.46 ± 0.42 | |
| Insula | 5.5 ± 0.46 | |
| Limbic Lobe | 4.93 ± 0.89 | |
| Mesencephalon | 5.15 ± 0.76 | |
| Myelencephalon | 5.11 ± 0.84 | |
| Occipital Lobe | 4.3 ± 0.99 | |
| Parietal Lobe | 5.22 ± 0.69 | |
| Pontine Tegmentum | 5.05 ± 0.8 | |
| Striatum | 5.16 ± 0.8 | |
| Subthalamus | 5.7 ± 0.47 | |
| Temporal Lobe | 5.35 ± 0.64 | |
| Thalamus | 5.25 ± 0.7 | |
| White Matter | 3.89 ± 0.85 |
| Gene Symbol | Brain Structure ID | Brain Structure Name | Express Desity/Level (Meatured by ISH) | Express Bar |
|---|---|---|---|---|
| Ccm2 | CB | Cerebellum | 24.84 | |
| 49.75 | ||||
| Ccm2 | CTX | Cerebral cortex | 36.78 | |
| 27.65 | ||||
| Ccm2 | HIP | Hippocampal region | 27.32 | |
| 29.18 | ||||
| Ccm2 | HPF | Hippocampal formation | 30.88 | |
| 30.03 | ||||
| Ccm2 | HY | Hypothalamus | 22.65 | |
| 19.08 | ||||
| Ccm2 | LSX | Lateral septal complex | 27.85 | |
| 20.31 | ||||
| Ccm2 | MB | Midbrain | 31.47 | |
| 29.68 | ||||
| Ccm2 | MY | Medulla | 52.44 | |
| 60.36 | ||||
| Ccm2 | OLF | Olfactory bulb | 51.33 | |
| 42.14 | ||||
| Ccm2 | P | Pons | 36.51 | |
| 41.26 | ||||
| Ccm2 | PAL | Pallidum | 25.07 | |
| 24.29 | ||||
| Ccm2 | RHP | Retrohippocampal region | 38.86 | |
| 32.91 | ||||
| Ccm2 | sAMY | Striatum-like amygdalar nuclei | 21.11 | |
| 16.25 | ||||
| Ccm2 | STR | Striatum | 81.17 | |
| 70.79 | ||||
| Ccm2 | STRd | Striatum dorsal region | 93.32 | |
| 80.98 | ||||
| Ccm2 | STRv | Striatum ventral region | 92.18 | |
| 86.46 | ||||
| Ccm2 | TH | Thalamus | 61.31 | |
| 61.31 |
| 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 |




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