Annotation Detail for MMAB
Basic Information Top
| Gene Symbol: | MMAB ( ATR,MGC20496,cblB,cob ) |
|---|---|
| Gene Full Name: | methylmalonic aciduria (cobalamin deficiency) cblB type |
| Band: | 12q24.11 |
| Quick Links | Entrez ID:326625; OMIM: 607568; Uniprot ID:MMAB_HUMAN; ENSEMBL ID: ENSG00000139428; HGNC ID: 19331 |
| Relate to Another Database: | SFARIGene; denovo-db |
- Unigene ID: Hs.12106
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
 | |||
| embryoid body | 4 / 70761 | 56 |  |
| blastocyst | 1 / 62319 | 16 |  |
| fetus | 27 / 564012 | 47 | |
| neonate | 0 / 31097 | 0 | |
| infant | 3 / 23620 | 127 | |
| juvenile | 1 / 55556 | 17 | |
| adult | 59 / 1939121 | 30 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adrenal tumor | 0 / 12794 | 0 | |
| bladder carcinoma | 0 / 17475 | 0 | |
| breast (mammary gland) tumor | 2 / 94178 | 21 | |
| cervical tumor | 0 / 34366 | 0 | |
| chondrosarcoma | 4 / 82823 | 48 | |
| colorectal tumor | 4 / 114246 | 35 | |
| esophageal tumor | 0 / 17290 | 0 | |
| gastrointestinal tumor | 1 / 119369 | 8 |  |
| germ cell tumor | 5 / 263845 | 18 | |
| glioma | 4 / 106883 | 37 | |
| head and neck tumor | 6 / 136302 | 44 | |
| kidney tumor | 2 / 68959 | 29 | |
| leukemia | 3 / 95842 | 31 | |
| liver tumor | 3 / 96359 | 31 | |
| lung tumor | 7 / 103127 | 67 | |
| lymphoma | 3 / 71755 | 41 | |
| non-neoplasia | 3 / 97250 | 30 | |
| normal | 109 / 3360307 | 32 | |
| ovarian tumor | 2 / 76682 | 26 | |
| pancreatic tumor | 2 / 104616 | 19 | |
| primitive neuroectodermal tumor of the CNS | 7 / 125680 | 55 | |
| prostate cancer | 6 / 102680 | 58 | |
| retinoblastoma | 1 / 46356 | 21 | |
| skin tumor | 5 / 124949 | 40 | |
| soft tissue/muscle tissue tumor | 3 / 125191 | 23 | |
| uterine tumor | 2 / 90257 | 22 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adipose tissue | 1 / 13106 | 76 | |
| adrenal gland | 4 / 33197 | 120 | |
| ascites | 1 / 40015 | 24 | |
| bladder | 1 / 29757 | 33 | |
| blood | 3 / 123478 | 24 | |
| bone | 4 / 71655 | 55 | |
| bone marrow | 1 / 48801 | 20 | |
| brain | 30 / 1100989 | 27 | |
| cervix | 0 / 48171 | 0 | |
| connective tissue | 2 / 149255 | 13 | |
| ear | 1 / 16212 | 61 | |
| embryonic tissue | 8 / 215722 | 37 | |
| esophagus | 0 / 20209 | 0 | |
| eye | 6 / 211054 | 28 | |
| heart | 6 / 89626 | 66 | |
| intestine | 10 / 234472 | 42 | |
| kidney | 10 / 211777 | 47 | |
| larynx | 0 / 24145 | 0 | |
| liver | 9 / 207743 | 43 | |
| lung | 14 / 336974 | 41 | |
| lymph | 3 / 44270 | 67 | |
| lymph node | 0 / 91610 | 0 | |
| mammary gland | 2 / 153271 | 13 | |
| mouth | 1 / 67052 | 14 | |
| muscle | 2 / 107715 | 18 | |
| nerve | 0 / 15768 | 0 | |
| ovary | 4 / 102051 | 39 | |
| pancreas | 3 / 214812 | 13 | |
| parathyroid | 0 / 20539 | 0 | |
| pharynx | 0 / 41328 | 0 | |
| pituitary gland | 1 / 16585 | 60 | |
| placenta | 7 / 280825 | 24 | |
| prostate | 10 / 189345 | 52 | |
| salivary gland | 5 / 20155 | 248 |  |
| skin | 5 / 210574 | 23 | |
| spleen | 0 / 53952 | 0 | |
| stomach | 0 / 96619 | 0 | |
| testis | 9 / 330442 | 27 | |
| thymus | 0 / 81131 | 0 | |
| thyroid | 1 / 47473 | 21 | |
| tonsil | 3 / 16999 | 176 | |
| trachea | 0 / 52413 | 0 | |
| umbilical cord | 0 / 13680 | 0 | |
| uterus | 3 / 232878 | 12 | |
| vascular | 2 / 51780 | 38 | |
Microarray in - Probe name: A_24_P364381
- 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 | 8.25 ± 0.16 | ![](../"images/bar_3.png"){kind=small}   |
| Basal Forebrain | 8.22 ± 0.1 | |
| Basal Part of Pons | 8.51 ± 0.2 | |
| Cerebellar Cortex | 8.16 ± 0.21 | |
| Cerebellar Nuclei | 8.55 ± 0.23 | |
| Claustrum | 8.35 ± 0.31 | |
| Epithalamus | 8.56 ± 0.13 | |
| Frontal Lobe | 8.44 ± 0.26 | |
| Globus Pallidus | 8.51 ± 0.33 | |
| Hypothalamus | 8.56 ± 0.24 | |
| Insula | 8.5 ± 0.23 | |
| Limbic Lobe | 8.16 ± 0.35 | |
| Mesencephalon | 8.28 ± 0.3 | |
| Myelencephalon | 8.35 ± 0.27 | |
| Occipital Lobe | 7.93 ± 0.24 | |
| Parietal Lobe | 8.22 ± 0.28 | |
| Pontine Tegmentum | 8.36 ± 0.29 | |
| Striatum | 8.1 ± 0.27 | |
| Subthalamus | 8.2 ± 0.09 | |
| Temporal Lobe | 8.42 ± 0.28 | |
| Thalamus | 8.41 ± 0.21 | |
| White Matter | 9.36 ± 0.19 | |
Mouse Brain ISH 
| Gene Symbol | Brain Structure ID | Brain Structure Name | Express Desity/Level (Meatured by ISH) | Express Bar |
|---|---|---|---|---|
| Mmab | CB | Cerebellum | 8.7 | |
| 8.79 | | |||
| Mmab | CTX | Cerebral cortex | 3.34 | |
| 2.21 | | |||
| Mmab | HIP | Hippocampal region | 5.86 | |
| 5.32 | | |||
| Mmab | HPF | Hippocampal formation | 5.18 | |
| 4.31 | | |||
| Mmab | HY | Hypothalamus | 5.15 | |
| 4.27 | | |||
| Mmab | LSX | Lateral septal complex | 1.12 | |
| 0.68 | | |||
| Mmab | MB | Midbrain | 5.28 | |
| 4.54 | | |||
| Mmab | MY | Medulla | 10.08 | |
| 9.56 | | |||
| Mmab | OLF | Olfactory bulb | 15.04 | |
| 11 | | |||
| Mmab | P | Pons | 8.71 | |
| 8.01 | | |||
| Mmab | PAL | Pallidum | 1.89 | |
| 1.55 | | |||
| Mmab | RHP | Retrohippocampal region | 4.32 | |
| 2.92 | | |||
| Mmab | sAMY | Striatum-like amygdalar nuclei | 1.26 | |
| 0.85 | | |||
| Mmab | STR | Striatum | 3.37 | |
| 3.13 | | |||
| Mmab | STRd | Striatum dorsal region | 3.82 | |
| 4.07 | | |||
| Mmab | STRv | Striatum ventral region | 3.94 | |
| 2.4 | | |||
| Mmab | TH | Thalamus | 4.85 | |
| 4.1 | |
| Peptide Name | Peptide Lengh | Peptide Start | Peptide End | Peptide Sequence | Source |
|---|---|---|---|---|---|
| PAp00003992 | 20 | 117 | 136 | IQCTLQDVGSALATPCSSAR | Peptide Atlas |