AutismKB 2.0

Annotation Detail for CFHR1


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Basic Information Top
Gene Symbol:CFHR1 ( CFHL,CFHL1,CFHL1P,CFHR1P,FHR1,H36-1,H36-2,HFL1,HFL2,MGC104329 )
Gene Full Name: complement factor H-related 1
Band: 1q31.3
Quick LinksEntrez ID:3078; OMIM: 134371; Uniprot ID:FHR1_HUMAN; ENSEMBL ID: ENSG00000080910,ENSG00000244414; HGNC ID: 4888
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 
fetus30 / 56401253
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult55 / 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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor24 / 96359249
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal111 / 336030733
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 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 
brain0 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart6 / 8962666
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver103 / 207743495
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215388_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.3
Adipocyte111.2
AdrenalCortex78.8
Adrenalgland34.05
Amygdala16.8
Appendix69.05
AtrioventricularNode180.1
BDCA4+_DentriticCells14.2
Bonemarrow26.9
BronchialEpithelialCells126.8
CD105+_Endothelial32.35
CD14+_Monocytes16.9
CD19+_BCells(neg._sel.)15.55
CD33+_Myeloid16.45
CD34+21.95
CD4+_Tcells20.7
CD56+_NKCells16.05
CD71+_EarlyErythroid15.95
CD8+_Tcells17.8
CardiacMyocytes195.35
Caudatenucleus22.7
Cerebellum14.1
CerebellumPeduncles36.65
CiliaryGanglion92.35
CingulateCortex28.5
Colorectaladenocarcinoma15.15
DorsalRootGanglion76.35
FetalThyroid191.75
Fetalbrain21.8
Fetalliver1030.2
Fetallung270.2
GlobusPallidus21.35
Heart27.6
Hypothalamus32.85
Kidney21.85
Leukemia_chronicMyelogenousK-562291.35
Leukemia_promyelocytic-HL-6013.4
Leukemialymphoblastic(MOLT-4)11.35
Liver830.05
Lung23.8
Lymphnode104.85
Lymphoma_burkitts(Daudi)29.8
Lymphoma_burkitts(Raji)20.95
MedullaOblongata15.45
OccipitalLobe21.75
OlfactoryBulb317.45
Ovary166.5
Pancreas62.4
PancreaticIslet97.75
ParietalLobe26.75
Pituitary35.65
Placenta18.1
Pons22.15
PrefrontalCortex62.3
Prostate20.5
Salivarygland231.5
SkeletalMuscle76.95
Skin96.25
SmoothMuscle516.15
Spinalcord64.7
SubthalamicNucleus26.8
SuperiorCervicalGanglion73.75
TemporalLobe17.25
Testis15.4
TestisGermCell28
TestisIntersitial15.25
TestisLeydigCell34.75
TestisSeminiferousTubule30.6
Thalamus33.3
Thymus15.2
Thyroid151.1
Tongue401.6
Tonsil39.4
Trachea116.95
TrigeminalGanglion78.2
Uterus19.4
UterusCorpus27.65
WholeBlood16.55
Wholebrain12
colon68.2
pineal_day30.18
pineal_night46.68
retina69.275
small_intestine110.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P336510
  • 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
Amygdala2.03 ± 0.98
Basal Forebrain1.51 ± 0.21
Basal Part of Pons1.23 ± 0.36
Cerebellar Cortex1.36 ± 0.63
Cerebellar Nuclei1.86 ± 0.72
Claustrum2.45 ± 0.79
Epithalamus1.22 ± 0.71
Frontal Lobe1.45 ± 0.7
Globus Pallidus2.06 ± 0.32
Hypothalamus1.6 ± 0.64
Insula1.57 ± 0.8
Limbic Lobe1.56 ± 0.62
Mesencephalon1.69 ± 0.65
Myelencephalon1.58 ± 0.63
Occipital Lobe1.58 ± 0.51
Parietal Lobe1.64 ± 0.61
Pontine Tegmentum1.63 ± 0.62
Striatum1.62 ± 0.43
Subthalamus1.74 ± 0.6
Temporal Lobe1.47 ± 0.57
Thalamus1.5 ± 0.6
White Matter1.93 ± 0.25
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024446 9 262 270 CLHPCVISR 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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