AutismKB 2.0

Annotation Detail for PINX1


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Basic Information Top
Gene Symbol:PINX1 ( FLJ20565,LPTL,LPTS,MGC8850 )
Gene Full Name: PIN2/TERF1 interacting, telomerase inhibitor 1
Band: 8p23
Quick LinksEntrez ID:54984; OMIM: 606505; Uniprot ID:PINX1_HUMAN; ENSEMBL ID: ENSG00000171056; HGNC ID: 30046
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 body3 / 7076142
blastocyst5 / 6231980
fetus14 / 56401224
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult32 / 193912116
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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 tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor11 / 26384541
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal57 / 336030716
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor0 / 902570 
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal2 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow1 / 4880120
brain10 / 11009899
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye4 / 21105418
heart3 / 8962633
intestine12 / 23447251
kidney5 / 21177723
larynx0 / 241450 
liver7 / 20774333
lung7 / 33697420
lymph1 / 4427022
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary2 / 10205119
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland1 / 2015549
skin7 / 21057433
spleen1 / 5395218
stomach2 / 9661920
testis7 / 33044221
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_17035_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
Amygdala5.78 ± 0.47
Basal Forebrain5.97 ± 0.3
Basal Part of Pons6.12 ± 0.3
Cerebellar Cortex6.24 ± 0.24
Cerebellar Nuclei5.97 ± 0.29
Claustrum5.59 ± 0.6
Epithalamus5.26 ± 0.36
Frontal Lobe5.76 ± 0.37
Globus Pallidus5.8 ± 0.38
Hypothalamus5.91 ± 0.34
Insula5.74 ± 0.29
Limbic Lobe5.87 ± 0.4
Mesencephalon5.81 ± 0.47
Myelencephalon5.79 ± 0.41
Occipital Lobe6.22 ± 0.42
Parietal Lobe6 ± 0.3
Pontine Tegmentum5.89 ± 0.43
Striatum5.89 ± 0.4
Subthalamus6 ± 0.41
Temporal Lobe5.78 ± 0.36
Thalamus5.84 ± 0.32
White Matter5.81 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2610028A01RikCBCerebellum1.13
1.5
2610028A01RikCTXCerebral cortex0.87
0.94
2610028A01RikHIPHippocampal region0.95
1.07
2610028A01RikHPFHippocampal formation0.9
0.97
2610028A01RikHYHypothalamus0.27
0.29
2610028A01RikLSXLateral septal complex0.13
0.06
2610028A01RikMBMidbrain0.34
0.56
2610028A01RikMYMedulla1.27
1.74
2610028A01RikOLFOlfactory bulb1.35
1.24
2610028A01RikPPons0.61
0.8
2610028A01RikPALPallidum0.21
0.2
2610028A01RikRHPRetrohippocampal region0.8
0.82
2610028A01RiksAMYStriatum-like amygdalar nuclei0.38
0.24
2610028A01RikSTRStriatum0.4
0.55
2610028A01RikSTRdStriatum dorsal region0.47
0.77
2610028A01RikSTRvStriatum ventral region0.31
0.23
2610028A01RikTHThalamus0.66
0.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064043 16 272 287 ASAQDAGDHVQPPEGR 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