Annotation Detail for PKHD1
Basic Information Top
| Gene Symbol: | PKHD1 ( ARPKD,DKFZp686C01112,FCYT,FLJ46150,TIGM1 ) |
|---|---|
| Gene Full Name: | polycystic kidney and hepatic disease 1 (autosomal recessive) |
| Band: | 6p12.3-p12.2 |
| Quick Links | Entrez ID:5314; OMIM: 606702; Uniprot ID:PKHD1_HUMAN; ENSEMBL ID: ENSG00000170927; HGNC ID: 9016 |
| Relate to Another Database: | SFARIGene; denovo-db |
- Unigene ID: Hs.662050
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
 | |||
| embryoid body | 0 / 70761 | 0 | |
| blastocyst | 0 / 62319 | 0 | |
| fetus | 7 / 564012 | 12 |  |
| neonate | 0 / 31097 | 0 | |
| infant | 0 / 23620 | 0 | |
| juvenile | 0 / 55556 | 0 | |
| adult | 11 / 1939121 | 5 |  |
| 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 | 0 / 94178 | 0 | |
| cervical tumor | 0 / 34366 | 0 | |
| chondrosarcoma | 0 / 82823 | 0 | |
| colorectal tumor | 0 / 114246 | 0 | |
| esophageal tumor | 0 / 17290 | 0 | |
| gastrointestinal tumor | 1 / 119369 | 8 | |
| germ cell tumor | 1 / 263845 | 3 | |
| glioma | 0 / 106883 | 0 | |
| head and neck tumor | 0 / 136302 | 0 | |
| kidney tumor | 1 / 68959 | 14 | |
| leukemia | 0 / 95842 | 0 | |
| liver tumor | 0 / 96359 | 0 | |
| lung tumor | 0 / 103127 | 0 | |
| lymphoma | 0 / 71755 | 0 | |
| non-neoplasia | 0 / 97250 | 0 | |
| normal | 22 / 3360307 | 6 | |
| ovarian tumor | 0 / 76682 | 0 | |
| pancreatic tumor | 5 / 104616 | 47 | |
| primitive neuroectodermal tumor of the CNS | 0 / 125680 | 0 | |
| prostate cancer | 0 / 102680 | 0 | |
| retinoblastoma | 0 / 46356 | 0 | |
| skin tumor | 0 / 124949 | 0 | |
| soft tissue/muscle tissue tumor | 0 / 125191 | 0 | |
| uterine tumor | 0 / 90257 | 0 |
| 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 | 0 / 40015 | 0 | |
| bladder | 0 / 29757 | 0 | |
| blood | 0 / 123478 | 0 | |
| bone | 0 / 71655 | 0 | |
| bone marrow | 0 / 48801 | 0 | |
| brain | 0 / 1100989 | 0 | |
| cervix | 0 / 48171 | 0 | |
| connective tissue | 0 / 149255 | 0 | |
| ear | 0 / 16212 | 0 | |
| embryonic tissue | 0 / 215722 | 0 | |
| esophagus | 0 / 20209 | 0 | |
| eye | 1 / 211054 | 4 | |
| heart | 0 / 89626 | 0 | |
| intestine | 0 / 234472 | 0 | |
| kidney | 9 / 211777 | 42 | |
| larynx | 0 / 24145 | 0 | |
| liver | 3 / 207743 | 14 | |
| lung | 4 / 336974 | 11 | |
| lymph | 0 / 44270 | 0 | |
| lymph node | 0 / 91610 | 0 | |
| mammary gland | 0 / 153271 | 0 | |
| mouth | 0 / 67052 | 0 | |
| muscle | 2 / 107715 | 18 | |
| nerve | 0 / 15768 | 0 | |
| ovary | 0 / 102051 | 0 | |
| pancreas | 5 / 214812 | 23 | |
| parathyroid | 0 / 20539 | 0 | |
| pharynx | 0 / 41328 | 0 | |
| pituitary gland | 0 / 16585 | 0 | |
| placenta | 0 / 280825 | 0 | |
| prostate | 0 / 189345 | 0 | |
| salivary gland | 0 / 20155 | 0 | |
| skin | 0 / 210574 | 0 | |
| spleen | 0 / 53952 | 0 | |
| stomach | 1 / 96619 | 10 | |
| testis | 6 / 330442 | 18 | |
| thymus | 0 / 81131 | 0 | |
| thyroid | 0 / 47473 | 0 | |
| tonsil | 0 / 16999 | 0 | |
| trachea | 0 / 52413 | 0 | |
| umbilical cord | 0 / 13680 | 0 | |
| uterus | 0 / 232878 | 0 | |
| vascular | 0 / 51780 | 0 |
- Probe name: A_24_P92508
- 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 | 2.36 ± 1.03 | ![](../"images/bar_3.png"){kind=small}   |
| Basal Forebrain | 1.96 ± 0.23 | |
| Basal Part of Pons | 1.52 ± 0.39 | |
| Cerebellar Cortex | 1.75 ± 0.55 | |
| Cerebellar Nuclei | 2.2 ± 0.64 | |
| Claustrum | 2.85 ± 0.93 | |
| Epithalamus | 1.62 ± 0.67 | |
| Frontal Lobe | 1.77 ± 0.76 | |
| Globus Pallidus | 2.35 ± 0.26 | |
| Hypothalamus | 2 ± 0.59 | |
| Insula | 1.89 ± 0.75 | |
| Limbic Lobe | 1.88 ± 0.62 | |
| Mesencephalon | 2.1 ± 0.67 | |
| Myelencephalon | 1.94 ± 0.72 | |
| Occipital Lobe | 1.98 ± 0.59 | |
| Parietal Lobe | 1.95 ± 0.83 | |
| Pontine Tegmentum | 2.02 ± 0.74 | |
| Striatum | 2.08 ± 0.56 | |
| Subthalamus | 3.02 ± 2.05 | |
| Temporal Lobe | 1.8 ± 0.67 | |
| Thalamus | 1.86 ± 0.6 | |
| White Matter | 2.24 ± 0.16 | |
Mouse Brain ISH 