AutismKB 2.0

Annotation Detail for PRTFDC1


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Basic Information Top
Gene Symbol:PRTFDC1 ( FLJ11888,HHGP )
Gene Full Name: phosphoribosyl transferase domain containing 1
Band: 10p12.1
Quick LinksEntrez ID:56952; OMIM: 610751; Uniprot ID:PRDC1_HUMAN; ENSEMBL ID: ENSG00000099256; HGNC ID: 23333
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 body1 / 7076114
blastocyst1 / 6231916
fetus23 / 56401240
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult46 / 193912123
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal107 / 336030731
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow1 / 4880120
brain62 / 110098956
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye6 / 21105428
heart4 / 8962644
intestine8 / 23447234
kidney5 / 21177723
larynx1 / 2414541
liver5 / 20774324
lung5 / 33697414
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach11 / 96619113
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular5 / 5178096
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1216_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
Amygdala7.47 ± 0.51
Basal Forebrain7.95 ± 0.26
Basal Part of Pons7.03 ± 0.29
Cerebellar Cortex7.16 ± 0.21
Cerebellar Nuclei7.54 ± 0.55
Claustrum7.24 ± 0.33
Epithalamus8.53 ± 0.36
Frontal Lobe7.32 ± 0.36
Globus Pallidus8.43 ± 0.29
Hypothalamus7.62 ± 0.42
Insula7.36 ± 0.22
Limbic Lobe7.38 ± 0.33
Mesencephalon7.67 ± 0.37
Myelencephalon7.54 ± 0.49
Occipital Lobe7.9 ± 0.45
Parietal Lobe7.46 ± 0.29
Pontine Tegmentum7.61 ± 0.35
Striatum8.32 ± 0.36
Subthalamus7.32 ± 0.1
Temporal Lobe7.34 ± 0.25
Thalamus7.58 ± 0.27
White Matter8.84 ± 0.21
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00354106 9 199 207 ALDYNEYFR Peptide Atlas

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