AutismKB 2.0

Annotation Detail for CFH


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Basic Information Top
Gene Symbol:CFH ( AHUS1,AMBP1,ARMD4,ARMS1,CFHL3,FH,FHL1,HF,HF1,HF2,HUS,MGC88246 )
Gene Full Name: complement factor H
Band: 1q31.3
Quick LinksEntrez ID:3075; OMIM: 134370; Uniprot ID:CFAH_HUMAN; ENSEMBL ID: ENSG00000000971; HGNC ID: 4883
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 
fetus69 / 564012122
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult165 / 193912185
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor1 / 9417810
cervical tumor3 / 3436687
chondrosarcoma9 / 82823108
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor12 / 119369100
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor51 / 96359529
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia40 / 97250411
normal314 / 336030793
ovarian tumor2 / 7668226
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites2 / 4001549
bladder9 / 29757302
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain35 / 110098931
cervix3 / 4817162
connective tissue74 / 149255495
ear4 / 16212246
embryonic tissue7 / 21572232
esophagus2 / 2020998
eye9 / 21105442
heart13 / 89626145
intestine17 / 23447272
kidney12 / 21177756
larynx0 / 241450 
liver110 / 207743529
lung17 / 33697450
lymph0 / 442700 
lymph node3 / 9161032
mammary gland9 / 15327158
mouth6 / 6705289
muscle9 / 10771583
nerve1 / 1576863
ovary5 / 10205148
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta20 / 28082571
prostate7 / 18934536
salivary gland0 / 201550 
skin11 / 21057452
spleen2 / 5395237
stomach12 / 96619124
testis19 / 33044257
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea112 / 524132136
umbilical cord1 / 1368073
uterus23 / 23287898
vascular9 / 51780173
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_P273972
  • 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
Amygdala2.94 ± 0.96
Basal Forebrain3.5 ± 0.64
Basal Part of Pons2.31 ± 0.74
Cerebellar Cortex2.52 ± 0.61
Cerebellar Nuclei4.11 ± 0.58
Claustrum3.1 ± 0.8
Epithalamus3.28 ± 0.84
Frontal Lobe3 ± 0.94
Globus Pallidus5.2 ± 0.3
Hypothalamus2.75 ± 0.83
Insula2.89 ± 0.68
Limbic Lobe2.85 ± 0.89
Mesencephalon3.53 ± 0.76
Myelencephalon3.26 ± 0.79
Occipital Lobe3.19 ± 0.88
Parietal Lobe3.13 ± 0.81
Pontine Tegmentum3.35 ± 0.85
Striatum3.95 ± 0.68
Subthalamus3.75 ± 0.69
Temporal Lobe3.01 ± 0.85
Thalamus3.35 ± 0.65
White Matter4.15 ± 0.86
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CfhCBCerebellum6.38
11.05
CfhCTXCerebral cortex4.13
3.38
CfhHIPHippocampal region2.93
3.69
CfhHPFHippocampal formation2.45
3.05
CfhHYHypothalamus2.16
2.59
CfhLSXLateral septal complex5.47
11.68
CfhMBMidbrain7.87
10.27
CfhMYMedulla10
11.81
CfhOLFOlfactory bulb7.11
6.7
CfhPPons8.59
9.56
CfhPALPallidum2.47
2.43
CfhRHPRetrohippocampal region1.23
1.2
CfhsAMYStriatum-like amygdalar nuclei2.68
2.71
CfhSTRStriatum2.83
2.93
CfhSTRdStriatum dorsal region2.6
2.44
CfhSTRvStriatum ventral region2.78
1.76
CfhTHThalamus4.64
5.4
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009868 18 1045 1062 DTSCVNPPTVQNAYIVSR 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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