AutismKB 2.0

Annotation Detail for HCFC1R1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HCFC1R1 ( FLJ20568,HPIP,MGC70711,MGC99622 )
Gene Full Name: host cell factor C1 regulator 1 (XPO1 dependent)
Band: 16p13.3
Quick LinksEntrez ID:54985; OMIM: NA; Uniprot ID:HPIP_HUMAN; ENSEMBL ID: ENSG00000103145; HGNC ID: 21198
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 
blastocyst7 / 62319112
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult77 / 193912139
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) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor0 / 2638450 
glioma7 / 10688365
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal121 / 336030736
ovarian tumor5 / 7668265
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood4 / 12347832
bone5 / 7165569
bone marrow0 / 488010 
brain24 / 110098921
cervix3 / 4817162
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye5 / 21105423
heart4 / 8962644
intestine2 / 2344728
kidney9 / 21177742
larynx0 / 241450 
liver2 / 2077439
lung13 / 33697438
lymph0 / 442700 
lymph node5 / 9161054
mammary gland6 / 15327139
mouth4 / 6705259
muscle12 / 107715111
nerve1 / 1576863
ovary6 / 10205158
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate8 / 18934542
salivary gland1 / 2015549
skin7 / 21057433
spleen0 / 539520 
stomach6 / 9661962
testis0 / 3304420 
thymus1 / 8113112
thyroid2 / 4747342
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord0 / 136800 
uterus14 / 23287860
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 45714_at
Cell line Expression level Expression bar
721_B_lymphoblasts229.5
Adipocyte153.35
AdrenalCortex105.3
Adrenalgland112.35
Amygdala221.35
Appendix101.45
AtrioventricularNode66.3
BDCA4+_DentriticCells34.5
Bonemarrow88.85
BronchialEpithelialCells80
CD105+_Endothelial49.65
CD14+_Monocytes117.7
CD19+_BCells(neg._sel.)61.3
CD33+_Myeloid74.35
CD34+79.25
CD4+_Tcells66.05
CD56+_NKCells86.75
CD71+_EarlyErythroid106.3
CD8+_Tcells62.55
CardiacMyocytes92.55
Caudatenucleus195.8
Cerebellum112.75
CerebellumPeduncles224.25
CiliaryGanglion72.05
CingulateCortex314.9
Colorectaladenocarcinoma97.8
DorsalRootGanglion77.35
FetalThyroid115.65
Fetalbrain186.45
Fetalliver81.05
Fetallung58
GlobusPallidus92.45
Heart382.85
Hypothalamus192.35
Kidney98.5
Leukemia_chronicMyelogenousK-56242.2
Leukemia_promyelocytic-HL-6080.25
Leukemialymphoblastic(MOLT-4)38.35
Liver205.25
Lung342.85
Lymphnode80.5
Lymphoma_burkitts(Daudi)113.8
Lymphoma_burkitts(Raji)445.9
MedullaOblongata199.55
OccipitalLobe123.45
OlfactoryBulb90.15
Ovary57.15
Pancreas33.05
PancreaticIslet72.35
ParietalLobe169.55
Pituitary141.9
Placenta87.45
Pons148.65
PrefrontalCortex403.15
Prostate193.75
Salivarygland66.35
SkeletalMuscle276.25
Skin62.85
SmoothMuscle75.35
Spinalcord124.6
SubthalamicNucleus161.2
SuperiorCervicalGanglion84.65
TemporalLobe204.4
Testis76.55
TestisGermCell80.75
TestisIntersitial53.65
TestisLeydigCell84.9
TestisSeminiferousTubule46.7
Thalamus242.4
Thymus63.05
Thyroid227.7
Tongue136.7
Tonsil80.3
Trachea76.7
TrigeminalGanglion80.65
Uterus155.85
UterusCorpus118.2
WholeBlood81.15
Wholebrain298.35
colon101.55
pineal_day286.64
pineal_night249.42
retina140.4
small_intestine81.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_475_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
Amygdala7.66 ± 0.39
Basal Forebrain7.98 ± 0.25
Basal Part of Pons8.34 ± 0.35
Cerebellar Cortex7.57 ± 0.24
Cerebellar Nuclei8.04 ± 0.33
Claustrum7.5 ± 0.55
Epithalamus7.84 ± 0.4
Frontal Lobe8.07 ± 0.39
Globus Pallidus7.75 ± 0.65
Hypothalamus8.31 ± 0.24
Insula8.07 ± 0.3
Limbic Lobe7.7 ± 0.52
Mesencephalon7.75 ± 0.44
Myelencephalon7.86 ± 0.52
Occipital Lobe7.31 ± 0.47
Parietal Lobe7.79 ± 0.45
Pontine Tegmentum7.82 ± 0.46
Striatum8.25 ± 0.45
Subthalamus8.22 ± 0.21
Temporal Lobe8.02 ± 0.43
Thalamus7.96 ± 0.43
White Matter6.8 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hcfc1r1CBCerebellum19.08
28.61
Hcfc1r1CTXCerebral cortex7.5
6
Hcfc1r1HIPHippocampal region6.19
6.38
Hcfc1r1HPFHippocampal formation6.15
5.62
Hcfc1r1HYHypothalamus1.05
1.14
Hcfc1r1LSXLateral septal complex0.48
0.37
Hcfc1r1MBMidbrain4.89
5.15
Hcfc1r1MYMedulla9.4
12.24
Hcfc1r1OLFOlfactory bulb7.68
8.37
Hcfc1r1PPons7.29
9.5
Hcfc1r1PALPallidum5.11
6.99
Hcfc1r1RHPRetrohippocampal region6.4
4.7
Hcfc1r1sAMYStriatum-like amygdalar nuclei0.91
0.98
Hcfc1r1STRStriatum3.06
3.68
Hcfc1r1STRdStriatum dorsal region4.15
5.18
Hcfc1r1STRvStriatum ventral region1.94
2.07
Hcfc1r1THThalamus7.66
6.66
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