AutismKB 2.0

Annotation Detail for PKD1L2


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Basic Information Top
Gene Symbol:PKD1L2 ( DKFZp686J19100,FLJ45333,PC1L2 )
Gene Full Name: polycystic kidney disease 1-like 2
Band: 16q23.2
Quick LinksEntrez ID:114780; OMIM: 607894; Uniprot ID:PK1L2_HUMAN; ENSEMBL ID: ENSG00000166473; HGNC ID: 21715
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst2 / 6231932
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult6 / 19391213
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal21 / 33603076
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain11 / 11009899
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node4 / 9161043
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P246518
  • 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
Amygdala2.83 ± 0.98
Basal Forebrain2.46 ± 0.64
Basal Part of Pons2.03 ± 0.53
Cerebellar Cortex2.09 ± 0.65
Cerebellar Nuclei2.65 ± 0.76
Claustrum2.77 ± 0.61
Epithalamus2.88 ± 1.01
Frontal Lobe2.34 ± 0.7
Globus Pallidus3.08 ± 0.45
Hypothalamus2.21 ± 0.58
Insula2.48 ± 0.66
Limbic Lobe2.29 ± 0.67
Mesencephalon2.46 ± 0.7
Myelencephalon2.38 ± 0.75
Occipital Lobe2.2 ± 0.74
Parietal Lobe2.07 ± 0.66
Pontine Tegmentum2.42 ± 0.67
Striatum2.7 ± 0.71
Subthalamus2.4 ± 0.74
Temporal Lobe2.44 ± 0.79
Thalamus2.14 ± 0.64
White Matter2.72 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pkd1l2CBCerebellum6.62
7.19
Pkd1l2CTXCerebral cortex5.69
4.94
Pkd1l2HIPHippocampal region4.08
3.76
Pkd1l2HPFHippocampal formation3.33
2.95
Pkd1l2HYHypothalamus2.15
1.53
Pkd1l2LSXLateral septal complex2.27
1.94
Pkd1l2MBMidbrain2.65
2.94
Pkd1l2MYMedulla6.98
7.21
Pkd1l2OLFOlfactory bulb9.1
8.39
Pkd1l2PPons3.23
3.68
Pkd1l2PALPallidum1.48
1.23
Pkd1l2RHPRetrohippocampal region1.95
1.78
Pkd1l2sAMYStriatum-like amygdalar nuclei1.06
0.76
Pkd1l2STRStriatum1.89
1.48
Pkd1l2STRdStriatum dorsal region1.75
1.34
Pkd1l2STRvStriatum ventral region2.25
1.82
Pkd1l2THThalamus2.53
2.32
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018