AutismKB 2.0

Annotation Detail for NCKAP5


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Basic Information Top
Gene Symbol:NCKAP5 ( ERIH1,ERIH2,FLJ34870,NAP5 )
Gene Full Name: NCK-associated protein 5
Band: 2q21.2
Quick LinksEntrez ID:344148; OMIM: 608789; Uniprot ID:NCKP5_HUMAN; ENSEMBL ID: ENSG00000176771; HGNC ID: 29847
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
blastocyst0 / 623190 
fetus19 / 56401233
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult21 / 193912110
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 tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal60 / 336030717
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue2 / 14925513
ear4 / 16212246
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine0 / 2344720 
kidney5 / 21177723
larynx1 / 2414541
liver2 / 2077439
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
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: A_23_P360079
  • 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
Amygdala6.75 ± 0.36
Basal Forebrain7.25 ± 0.38
Basal Part of Pons6.59 ± 0.32
Cerebellar Cortex6.62 ± 0.19
Cerebellar Nuclei7.42 ± 0.41
Claustrum6.63 ± 0.35
Epithalamus7.27 ± 0.41
Frontal Lobe6.77 ± 0.43
Globus Pallidus7.95 ± 0.21
Hypothalamus6.77 ± 0.22
Insula6.65 ± 0.25
Limbic Lobe6.71 ± 0.56
Mesencephalon6.99 ± 0.55
Myelencephalon6.96 ± 0.49
Occipital Lobe6.97 ± 0.4
Parietal Lobe6.81 ± 0.42
Pontine Tegmentum7.09 ± 0.35
Striatum7.77 ± 0.51
Subthalamus6.86 ± 0.18
Temporal Lobe6.76 ± 0.33
Thalamus7.12 ± 0.27
White Matter8.52 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
E030049G20RikCBCerebellum32.47
54.91
E030049G20RikCTXCerebral cortex26.15
19.48
E030049G20RikHIPHippocampal region26.51
31.56
E030049G20RikHPFHippocampal formation33.38
33.08
E030049G20RikHYHypothalamus10.53
9.55
E030049G20RikLSXLateral septal complex1.64
1.13
E030049G20RikMBMidbrain4.42
3.84
E030049G20RikMYMedulla11.64
11.51
E030049G20RikOLFOlfactory bulb40.91
39.31
E030049G20RikPPons6.76
5.56
E030049G20RikPALPallidum15.38
13.41
E030049G20RikRHPRetrohippocampal region47.28
37.1
E030049G20RiksAMYStriatum-like amygdalar nuclei30.88
20.54
E030049G20RikSTRStriatum22.51
16.22
E030049G20RikSTRdStriatum dorsal region26.93
19.82
E030049G20RikSTRvStriatum ventral region15.85
11.29
E030049G20RikTHThalamus13.82
10.95
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