Annotation Detail for PNKD
Basic Information Top
| Gene Symbol: | PNKD ( BRP17,DKFZp564N1362,DYT8,FPD1,KIAA1184,KIPP1184,MGC31943,MR-1,MR1,PDC,TAHCCP2 ) |
|---|---|
| Gene Full Name: | paroxysmal nonkinesigenic dyskinesia |
| Band: | 2q35 |
| Quick Links | Entrez ID:25953; OMIM: 609023; Uniprot ID:PNKD_HUMAN; ENSEMBL ID: ENSG00000127838; HGNC ID: 9153 |
| Relate to Another Database: | SFARIGene; denovo-db |
- Unigene ID: Hs.98475
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
 | |||
| embryoid body | 7 / 70761 | 98 |  |
| blastocyst | 3 / 62319 | 48 |  |
| fetus | 48 / 564012 | 85 | |
| neonate | 0 / 31097 | 0 | |
| infant | 0 / 23620 | 0 | |
| juvenile | 1 / 55556 | 17 | |
| adult | 126 / 1939121 | 64 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adrenal tumor | 1 / 12794 | 78 | |
| bladder carcinoma | 0 / 17475 | 0 | |
| breast (mammary gland) tumor | 2 / 94178 | 21 | |
| cervical tumor | 1 / 34366 | 29 | |
| chondrosarcoma | 3 / 82823 | 36 | |
| colorectal tumor | 7 / 114246 | 61 | |
| esophageal tumor | 0 / 17290 | 0 | |
| gastrointestinal tumor | 3 / 119369 | 25 | |
| germ cell tumor | 12 / 263845 | 45 | |
| glioma | 11 / 106883 | 102 | |
| head and neck tumor | 1 / 136302 | 7 |  |
| kidney tumor | 4 / 68959 | 58 | |
| leukemia | 3 / 95842 | 31 | |
| liver tumor | 2 / 96359 | 20 | |
| lung tumor | 4 / 103127 | 38 | |
| lymphoma | 2 / 71755 | 27 | |
| non-neoplasia | 4 / 97250 | 41 | |
| normal | 195 / 3360307 | 58 | |
| ovarian tumor | 13 / 76682 | 169 | |
| pancreatic tumor | 0 / 104616 | 0 | |
| primitive neuroectodermal tumor of the CNS | 1 / 125680 | 7 | |
| prostate cancer | 3 / 102680 | 29 | |
| retinoblastoma | 2 / 46356 | 43 | |
| skin tumor | 6 / 124949 | 48 | |
| soft tissue/muscle tissue tumor | 3 / 125191 | 23 | |
| uterine tumor | 8 / 90257 | 88 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adipose tissue | 0 / 13106 | 0 | |
| adrenal gland | 3 / 33197 | 90 | |
| ascites | 0 / 40015 | 0 | |
| bladder | 0 / 29757 | 0 | |
| blood | 5 / 123478 | 40 | |
| bone | 5 / 71655 | 69 | |
| bone marrow | 3 / 48801 | 61 | |
| brain | 38 / 1100989 | 34 | |
| cervix | 1 / 48171 | 20 | |
| connective tissue | 6 / 149255 | 40 | |
| ear | 0 / 16212 | 0 | |
| embryonic tissue | 10 / 215722 | 46 | |
| esophagus | 0 / 20209 | 0 | |
| eye | 14 / 211054 | 66 | |
| heart | 16 / 89626 | 178 | |
| intestine | 17 / 234472 | 72 | |
| kidney | 15 / 211777 | 70 | |
| larynx | 0 / 24145 | 0 | |
| liver | 9 / 207743 | 43 | |
| lung | 15 / 336974 | 44 | |
| lymph | 0 / 44270 | 0 | |
| lymph node | 7 / 91610 | 76 | |
| mammary gland | 5 / 153271 | 32 | |
| mouth | 1 / 67052 | 14 | |
| muscle | 2 / 107715 | 18 | |
| nerve | 0 / 15768 | 0 | |
| ovary | 16 / 102051 | 156 | |
| pancreas | 0 / 214812 | 0 | |
| parathyroid | 6 / 20539 | 292 |  |
| pharynx | 0 / 41328 | 0 | |
| pituitary gland | 3 / 16585 | 180 | |
| placenta | 22 / 280825 | 78 | |
| prostate | 16 / 189345 | 84 | |
| salivary gland | 0 / 20155 | 0 | |
| skin | 8 / 210574 | 37 | |
| spleen | 2 / 53952 | 37 | |
| stomach | 4 / 96619 | 41 | |
| testis | 18 / 330442 | 54 | |
| thymus | 1 / 81131 | 12 | |
| thyroid | 1 / 47473 | 21 | |
| tonsil | 0 / 16999 | 0 | |
| trachea | 0 / 52413 | 0 | |
| umbilical cord | 0 / 13680 | 0 | |
| uterus | 17 / 232878 | 72 | |
| vascular | 1 / 51780 | 19 | |
Microarray in - Probe name: CUST_12751_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 | 6.88 ± 0.5 | ![](../"images/bar_3.png"){kind=small}   |
| Basal Forebrain | 7.22 ± 0.1 | |
| Basal Part of Pons | 7.63 ± 0.41 | |
| Cerebellar Cortex | 7.48 ± 0.31 | |
| Cerebellar Nuclei | 7.31 ± 0.33 | |
| Claustrum | 6.57 ± 0.73 | |
| Epithalamus | 7.4 ± 0.25 | |
| Frontal Lobe | 7.37 ± 0.43 | |
| Globus Pallidus | 7.66 ± 0.27 | |
| Hypothalamus | 7.43 ± 0.23 | |
| Insula | 7.19 ± 0.43 | |
| Limbic Lobe | 7 ± 0.43 | |
| Mesencephalon | 7.19 ± 0.47 | |
| Myelencephalon | 7.23 ± 0.43 | |
| Occipital Lobe | 6.9 ± 0.33 | |
| Parietal Lobe | 7.31 ± 0.37 | |
| Pontine Tegmentum | 7.26 ± 0.32 | |
| Striatum | 7.12 ± 0.39 | |
| Subthalamus | 7.3 ± 0.21 | |
| Temporal Lobe | 7.24 ± 0.34 | |
| Thalamus | 7.34 ± 0.37 | |
| White Matter | 7.58 ± 0.39 | |
Mouse Brain ISH 
| Gene Symbol | Brain Structure ID | Brain Structure Name | Express Desity/Level (Meatured by ISH) | Express Bar |
|---|---|---|---|---|
| Pnkd | CB | Cerebellum | 49.05 | |
| 65.49 | | |||
| Pnkd | CTX | Cerebral cortex | 79.76 | |
| 83.78 | | |||
| Pnkd | HIP | Hippocampal region | 67.49 | |
| 100 | | |||
| Pnkd | HPF | Hippocampal formation | 77.39 | |
| 100 | | |||
| Pnkd | HY | Hypothalamus | 64.63 | |
| 73.5 | | |||
| Pnkd | LSX | Lateral septal complex | 58.09 | |
| 48.87 | | |||
| Pnkd | MB | Midbrain | 93.5 | |
| 100 | | |||
| Pnkd | MY | Medulla | 89.67 | |
| 100 | | |||
| Pnkd | OLF | Olfactory bulb | 53.05 | |
| 53.3 | | |||
| Pnkd | P | Pons | 85.18 | |
| 100 | | |||
| Pnkd | PAL | Pallidum | 70.8 | |
| 88.58 | | |||
| Pnkd | RHP | Retrohippocampal region | 90.26 | |
| 100 | | |||
| Pnkd | sAMY | Striatum-like amygdalar nuclei | 60.98 | |
| 59.78 | | |||
| Pnkd | STR | Striatum | 46.8 | |
| 40.36 | | |||
| Pnkd | STRd | Striatum dorsal region | 42.3 | |
| 35.58 | | |||
| Pnkd | STRv | Striatum ventral region | 52.18 | |
| 43.31 | | |||
| Pnkd | TH | Thalamus | 55.18 | |
| 68.3 | |
| Peptide Name | Peptide Lengh | Peptide Start | Peptide End | Peptide Sequence | Source |
|---|---|---|---|---|---|
| PAp00507334 | 15 | 51 | 65 | EEPEPLSPELEYIPR | Peptide Atlas |