Annotation Detail for NF1
Basic Information Top
| Gene Symbol: | NF1 ( DKFZp686J1293,FLJ21220,NFNS,VRNF,WSS ) |
|---|---|
| Gene Full Name: | neurofibromin 1 |
| Band: | 17q11.2 |
| Quick Links | Entrez ID:4763; OMIM: 613113; Uniprot ID:NF1_HUMAN; ENSEMBL ID: ENSG00000196712; HGNC ID: 7765 |
| Relate to Another Database: | SFARIGene; denovo-db |
- Unigene ID: Hs.113577
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
 | |||
| embryoid body | 6 / 70761 | 84 |  |
| blastocyst | 8 / 62319 | 128 | |
| fetus | 43 / 564012 | 76 | |
| neonate | 1 / 31097 | 32 |  |
| infant | 1 / 23620 | 42 | |
| juvenile | 1 / 55556 | 17 | |
| adult | 135 / 1939121 | 69 | |
| 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 | 9 / 94178 | 95 | |
| cervical tumor | 1 / 34366 | 29 | |
| chondrosarcoma | 10 / 82823 | 120 | |
| colorectal tumor | 10 / 114246 | 87 | |
| esophageal tumor | 1 / 17290 | 57 | |
| gastrointestinal tumor | 3 / 119369 | 25 | |
| germ cell tumor | 8 / 263845 | 30 | |
| glioma | 6 / 106883 | 56 | |
| head and neck tumor | 12 / 136302 | 88 | |
| kidney tumor | 8 / 68959 | 116 | |
| leukemia | 3 / 95842 | 31 | |
| liver tumor | 4 / 96359 | 41 | |
| lung tumor | 0 / 103127 | 0 | |
| lymphoma | 0 / 71755 | 0 | |
| non-neoplasia | 1 / 97250 | 10 |  |
| normal | 260 / 3360307 | 77 | |
| ovarian tumor | 4 / 76682 | 52 | |
| pancreatic tumor | 3 / 104616 | 28 | |
| primitive neuroectodermal tumor of the CNS | 0 / 125680 | 0 | |
| prostate cancer | 1 / 102680 | 9 | |
| retinoblastoma | 1 / 46356 | 21 | |
| skin tumor | 0 / 124949 | 0 | |
| soft tissue/muscle tissue tumor | 10 / 125191 | 79 | |
| uterine tumor | 5 / 90257 | 55 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adipose tissue | 0 / 13106 | 0 | |
| adrenal gland | 0 / 33197 | 0 | |
| ascites | 0 / 40015 | 0 | |
| bladder | 3 / 29757 | 100 | |
| blood | 3 / 123478 | 24 | |
| bone | 7 / 71655 | 97 | |
| bone marrow | 2 / 48801 | 40 | |
| brain | 56 / 1100989 | 50 | |
| cervix | 2 / 48171 | 41 | |
| connective tissue | 11 / 149255 | 73 | |
| ear | 0 / 16212 | 0 | |
| embryonic tissue | 21 / 215722 | 97 | |
| esophagus | 1 / 20209 | 49 | |
| eye | 21 / 211054 | 99 | |
| heart | 4 / 89626 | 44 | |
| intestine | 14 / 234472 | 59 | |
| kidney | 15 / 211777 | 70 | |
| larynx | 3 / 24145 | 124 | |
| liver | 7 / 207743 | 33 | |
| lung | 14 / 336974 | 41 | |
| lymph | 0 / 44270 | 0 | |
| lymph node | 9 / 91610 | 98 | |
| mammary gland | 10 / 153271 | 65 | |
| mouth | 6 / 67052 | 89 | |
| muscle | 6 / 107715 | 55 | |
| nerve | 0 / 15768 | 0 | |
| ovary | 5 / 102051 | 48 | |
| pancreas | 16 / 214812 | 74 | |
| parathyroid | 3 / 20539 | 146 | |
| pharynx | 1 / 41328 | 24 | |
| pituitary gland | 0 / 16585 | 0 | |
| placenta | 15 / 280825 | 53 | |
| prostate | 5 / 189345 | 26 | |
| salivary gland | 0 / 20155 | 0 | |
| skin | 10 / 210574 | 47 | |
| spleen | 0 / 53952 | 0 | |
| stomach | 4 / 96619 | 41 | |
| testis | 49 / 330442 | 148 | |
| thymus | 7 / 81131 | 86 | |
| thyroid | 3 / 47473 | 63 | |
| tonsil | 0 / 16999 | 0 | |
| trachea | 3 / 52413 | 57 | |
| umbilical cord | 0 / 13680 | 0 | |
| uterus | 8 / 232878 | 34 | |
| vascular | 1 / 51780 | 19 | |
- Microarray Platform: GeneAtlas U133A, gcrma
- Affymatrix Probe ID: 204323_x_at
| Cell line | Expression level | Expression bar |
|---|---|---|
| ||
| 721_B_lymphoblasts | 4.45 | |
| Adipocyte | 3.5 | |
| AdrenalCortex | 3.75 | |
| Adrenalgland | 3 | |
| Amygdala | 3.7 | |
| Appendix | 3.6 | |
| AtrioventricularNode | 2.85 | |
| BDCA4+_DentriticCells | 4.05 | |
| Bonemarrow | 3.5 | |
| BronchialEpithelialCells | 3.5 | |
| CD105+_Endothelial | 3.6 | |
| CD14+_Monocytes | 3.8 | |
| CD19+_BCells(neg._sel.) | 3.8 | |
| CD33+_Myeloid | 4.6 | |
| CD34+ | 4.55 | |
| CD4+_Tcells | 3.9 | |
| CD56+_NKCells | 4.25 | |
| CD71+_EarlyErythroid | 3.35 | |
| CD8+_Tcells | 3.5 | |
| CardiacMyocytes | 5.5 | |
| Caudatenucleus | 3.15 | |
| Cerebellum | 2.9 | |
| CerebellumPeduncles | 4.1 | |
| CiliaryGanglion | 2.65 | |
| CingulateCortex | 3.6 | |
| Colorectaladenocarcinoma | 3.55 | |
| DorsalRootGanglion | 2.75 | |
| FetalThyroid | 4.3 | |
| Fetalbrain | 3.5 | |
| Fetalliver | 3.05 | |
| Fetallung | 2.9 | |
| GlobusPallidus | 2.6 | |
| Heart | 4.5 | |
| Hypothalamus | 3.85 | |
| Kidney | 2.9 | |
| Leukemia_chronicMyelogenousK-562 | 3.2 | |
| Leukemia_promyelocytic-HL-60 | 3.1 | |
| Leukemialymphoblastic(MOLT-4) | 2.85 | |
| Liver | 4.65 | |
| Lung | 4.3 | |
| Lymphnode | 3.05 | |
| Lymphoma_burkitts(Daudi) | 4.5 | |
| Lymphoma_burkitts(Raji) | 4.9 | |
| MedullaOblongata | 3.25 | |
| OccipitalLobe | 3.2 | |
| OlfactoryBulb | 2.85 | |
| Ovary | 2.4 | |
| Pancreas | 2.8 | |
| PancreaticIslet | 3.8 | |
| ParietalLobe | 3.75 | |
| Pituitary | 4.15 | |
| Placenta | 3.7 | |
| Pons | 4.2 | |
| PrefrontalCortex | 4.45 | |
| Prostate | 4.2 | |
| Salivarygland | 2.8 | |
| SkeletalMuscle | 4.1 | |
| Skin | 3.05 | |
| SmoothMuscle | 4.05 | |
| Spinalcord | 3.8 | |
| SubthalamicNucleus | 3.25 | |
| SuperiorCervicalGanglion | 4.1 | |
| TemporalLobe | 3.25 | |
| Testis | 3.1 | |
| TestisGermCell | 2.95 | |
| TestisIntersitial | 3 | |
| TestisLeydigCell | 3.55 | |
| TestisSeminiferousTubule | 3.05 | |
| Thalamus | 3.6 | |
| Thymus | 2.8 | |
| Thyroid | 4.45 | |
| Tongue | 3.45 | |
| Tonsil | 3.45 | |
| Trachea | 3 | |
| TrigeminalGanglion | 3.55 | |
| Uterus | 2.95 | |
| UterusCorpus | 3.15 | |
| WholeBlood | 3.95 | |
| Wholebrain | 3.05 | |
| colon | 3.6 | |
| pineal_day | 4.44 | |
| pineal_night | 4.36 | |
| retina | 4.275 | |
| small_intestine | 3.45 | |
- Probe name: CUST_15471_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 | 9.63 ± 0.13 | ![](../"images/bar_3.png"){kind=small}   |
| Basal Forebrain | 9.54 ± 0.17 | |
| Basal Part of Pons | 9.47 ± 0.17 | |
| Cerebellar Cortex | 9.57 ± 0.23 | |
| Cerebellar Nuclei | 9.46 ± 0.19 | |
| Claustrum | 9.63 ± 0.51 | |
| Epithalamus | 9.33 ± 0.32 | |
| Frontal Lobe | 9.56 ± 0.22 | |
| Globus Pallidus | 9.59 ± 0.11 | |
| Hypothalamus | 9.6 ± 0.29 | |
| Insula | 9.54 ± 0.25 | |
| Limbic Lobe | 9.61 ± 0.23 | |
| Mesencephalon | 9.54 ± 0.23 | |
| Myelencephalon | 9.55 ± 0.21 | |
| Occipital Lobe | 9.59 ± 0.19 | |
| Parietal Lobe | 9.62 ± 0.22 | |
| Pontine Tegmentum | 9.57 ± 0.24 | |
| Striatum | 9.63 ± 0.22 | |
| Subthalamus | 9.36 ± 0.19 | |
| Temporal Lobe | 9.56 ± 0.22 | |
| Thalamus | 9.61 ± 0.2 | |
| White Matter | 9.8 ± 0.3 | |
Mouse Brain ISH 
| Gene Symbol | Brain Structure ID | Brain Structure Name | Express Desity/Level (Meatured by ISH) | Express Bar |
|---|---|---|---|---|
| Nf1 | CB | Cerebellum | 25.58 | |
| 42.19 | | |||
| Nf1 | CTX | Cerebral cortex | 59.11 | |
| 51.28 | | |||
| Nf1 | HIP | Hippocampal region | 35.28 | |
| 54.12 | | |||
| Nf1 | HPF | Hippocampal formation | 50.59 | |
| 63.07 | | |||
| Nf1 | HY | Hypothalamus | 17.54 | |
| 15.54 | | |||
| Nf1 | LSX | Lateral septal complex | 6.16 | |
| 4.27 | | |||
| Nf1 | MB | Midbrain | 25.2 | |
| 27.6 | | |||
| Nf1 | MY | Medulla | 42.99 | |
| 53.79 | | |||
| Nf1 | OLF | Olfactory bulb | 44.17 | |
| 41.77 | | |||
| Nf1 | P | Pons | 31.1 | |
| 37.74 | | |||
| Nf1 | PAL | Pallidum | 31.21 | |
| 32.66 | | |||
| Nf1 | RHP | Retrohippocampal region | 72.72 | |
| 73.97 | | |||
| Nf1 | sAMY | Striatum-like amygdalar nuclei | 48.69 | |
| 39.2 | | |||
| Nf1 | STR | Striatum | 22.4 | |
| 18.77 | | |||
| Nf1 | STRd | Striatum dorsal region | 21.8 | |
| 19.04 | | |||
| Nf1 | STRv | Striatum ventral region | 19.08 | |
| 14.52 | | |||
| Nf1 | TH | Thalamus | 22.66 | |
| 21.93 | |
| Peptide Name | Peptide Lengh | Peptide Start | Peptide End | Peptide Sequence | Source |
|---|---|---|---|---|---|
| NF1_HUMAN_1397 | 16 | 1397 | 1412 | FPQNSIGAVGSAMFLR | PRIDE |
| NF1_HUMAN_2186 | 9 | 2186 | 2194 | SFSPGSYER | PRIDE |
| NF1_HUMAN_759 | 7 | 759 | 765 | VMALLRR | PRIDE |
| NF1_HUMAN_898 | 9 | 898 | 906 | LLSLMVCNH | PRIDE |
| PAp00433333 | 29 | 1143 | 1171 | HCTVLAMSNLLNANVDSGLMHSIGLGYHK | Peptide Atlas |