AutismKB 2.0

Annotation Detail for NCKAP1L


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Basic Information Top
Gene Symbol:NCKAP1L ( HEM1 )
Gene Full Name: NCK-associated protein 1-like
Band: 12q13.13-q13.2
Quick LinksEntrez ID:3071; OMIM: 141180; Uniprot ID:NCKPL_HUMAN; ENSEMBL ID: ENSG00000123338; HGNC ID: 4862
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 
blastocyst0 / 623190 
fetus13 / 56401223
neonate1 / 3109732
infant0 / 236200 
juvenile11 / 55556197
adult56 / 193912128
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor17 / 26384564
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia14 / 95842146
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma18 / 71755250
non-neoplasia32 / 97250329
normal132 / 336030739
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
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 
blood21 / 123478170
bone3 / 7165541
bone marrow5 / 48801102
brain55 / 110098949
cervix0 / 481710 
connective tissue35 / 149255234
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine4 / 23447217
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung5 / 33697414
lymph13 / 44270293
lymph node20 / 91610218
mammary gland2 / 15327113
mouth6 / 6705289
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid4 / 20539194
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta11 / 28082539
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen14 / 53952259
stomach4 / 9661941
testis3 / 3304429
thymus73 / 81131899
thyroid1 / 4747321
tonsil1 / 1699958
trachea7 / 52413133
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209734_at
Cell line Expression level Expression bar
721_B_lymphoblasts232.6
Adipocyte12.25
AdrenalCortex13.15
Adrenalgland13.6
Amygdala13.9
Appendix16.6
AtrioventricularNode9.55
BDCA4+_DentriticCells1150.3
Bonemarrow75.85
BronchialEpithelialCells12
CD105+_Endothelial25.9
CD14+_Monocytes616.25
CD19+_BCells(neg._sel.)181.8
CD33+_Myeloid805.8
CD34+449.7
CD4+_Tcells205.55
CD56+_NKCells894.75
CD71+_EarlyErythroid12.35
CD8+_Tcells102.95
CardiacMyocytes16.8
Caudatenucleus11.45
Cerebellum10.35
CerebellumPeduncles14.65
CiliaryGanglion8.95
CingulateCortex12.8
Colorectaladenocarcinoma13
DorsalRootGanglion9.85
FetalThyroid12.55
Fetalbrain12.7
Fetalliver11.2
Fetallung10.35
GlobusPallidus9.25
Heart19.35
Hypothalamus13.95
Kidney10.3
Leukemia_chronicMyelogenousK-56215.3
Leukemia_promyelocytic-HL-6012.75
Leukemialymphoblastic(MOLT-4)16.85
Liver16.9
Lung15.1
Lymphnode13.2
Lymphoma_burkitts(Daudi)19.75
Lymphoma_burkitts(Raji)32.5
MedullaOblongata11.65
OccipitalLobe11.65
OlfactoryBulb10.05
Ovary8.7
Pancreas10.1
PancreaticIslet13.3
ParietalLobe13.5
Pituitary15.1
Placenta13.75
Pons12.9
PrefrontalCortex15.3
Prostate15.4
Salivarygland13.2
SkeletalMuscle24.8
Skin9.9
SmoothMuscle13.65
Spinalcord13.85
SubthalamicNucleus11.55
SuperiorCervicalGanglion15.15
TemporalLobe11.6
Testis11.1
TestisGermCell10.8
TestisIntersitial10.6
TestisLeydigCell12.85
TestisSeminiferousTubule14.15
Thalamus12.85
Thymus79.5
Thyroid18.25
Tongue12.6
Tonsil43.95
Trachea12.85
TrigeminalGanglion17.05
Uterus10.7
UterusCorpus16.3
WholeBlood98.45
Wholebrain10.95
colon13.05
pineal_day16.16
pineal_night15.96
retina15.675
small_intestine12.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1037_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
Amygdala2.04 ± 1
Basal Forebrain1.61 ± 0.2
Basal Part of Pons1.33 ± 0.28
Cerebellar Cortex1.42 ± 0.64
Cerebellar Nuclei1.88 ± 0.72
Claustrum2.47 ± 0.85
Epithalamus1.39 ± 0.79
Frontal Lobe1.42 ± 0.6
Globus Pallidus2.13 ± 0.29
Hypothalamus1.69 ± 0.7
Insula1.45 ± 0.46
Limbic Lobe1.56 ± 0.59
Mesencephalon1.76 ± 0.65
Myelencephalon1.64 ± 0.65
Occipital Lobe1.59 ± 0.62
Parietal Lobe1.62 ± 0.7
Pontine Tegmentum1.69 ± 0.71
Striatum1.97 ± 0.6
Subthalamus1.83 ± 0.53
Temporal Lobe1.57 ± 0.65
Thalamus1.6 ± 0.58
White Matter2.09 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nckap1lCBCerebellum3.4
4.75
Nckap1lCTXCerebral cortex13.52
10.64
Nckap1lHIPHippocampal region7.92
7.37
Nckap1lHPFHippocampal formation7.66
6.69
Nckap1lHYHypothalamus0.75
0.58
Nckap1lLSXLateral septal complex0.89
0.48
Nckap1lMBMidbrain1.45
2.72
Nckap1lMYMedulla2.16
2.95
Nckap1lOLFOlfactory bulb6.04
6.09
Nckap1lPPons0.6
1.2
Nckap1lPALPallidum1.89
1.43
Nckap1lRHPRetrohippocampal region7.21
5.75
Nckap1lsAMYStriatum-like amygdalar nuclei2.33
1.55
Nckap1lSTRStriatum3.41
2.41
Nckap1lSTRdStriatum dorsal region3.61
2.7
Nckap1lSTRvStriatum ventral region3.73
2.1
Nckap1lTHThalamus1.05
0.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NCKPL_HUMAN_14 19 14 32 LTILNDRGQGVLIRMYNIK PRIDE
NCKPL_HUMAN_838 12 838 849 ALAELLGPYGMK PRIDE
PAp00005794 16 592 607 NHGLHHCNSFLEELAK 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


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