AutismKB 2.0

Annotation Detail for C3


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Basic Information Top
Gene Symbol:C3 ( AHUS5,ARMD9,ASP,CPAMD1 )
Gene Full Name: complement component 3
Band: 19p13.3
Quick LinksEntrez ID:718; OMIM: 120700; Uniprot ID:CO3_HUMAN; ENSEMBL ID: ENSG00000125730; HGNC ID: 1318
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 body1 / 7076114
blastocyst0 / 623190 
fetus142 / 564012251
neonate2 / 3109764
infant0 / 236200 
juvenile4 / 5555671
adult632 / 1939121325
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor9 / 12794703
bladder carcinoma0 / 174750 
breast (mammary gland) tumor39 / 94178414
cervical tumor4 / 34366116
chondrosarcoma13 / 82823156
colorectal tumor23 / 114246201
esophageal tumor2 / 17290115
gastrointestinal tumor30 / 119369251
germ cell tumor8 / 26384530
glioma15 / 106883140
head and neck tumor32 / 136302234
kidney tumor17 / 68959246
leukemia14 / 95842146
liver tumor54 / 96359560
lung tumor21 / 103127203
lymphoma7 / 7175597
non-neoplasia7 / 9725071
normal569 / 3360307169
ovarian tumor70 / 76682912
pancreatic tumor26 / 104616248
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor59 / 90257653
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue25 / 131061907
adrenal gland12 / 33197361
ascites0 / 400150 
bladder1 / 2975733
blood17 / 123478137
bone4 / 7165555
bone marrow1 / 4880120
brain67 / 110098960
cervix7 / 48171145
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus2 / 2020998
eye22 / 211054104
heart11 / 89626122
intestine29 / 234472123
kidney30 / 211777141
larynx2 / 2414582
liver248 / 2077431193
lung90 / 336974267
lymph0 / 442700 
lymph node6 / 9161065
mammary gland97 / 153271632
mouth10 / 67052149
muscle4 / 10771537
nerve6 / 15768380
ovary73 / 102051715
pancreas30 / 214812139
parathyroid4 / 20539194
pharynx13 / 41328314
pituitary gland0 / 165850 
placenta9 / 28082532
prostate8 / 18934542
salivary gland0 / 201550 
skin5 / 21057423
spleen8 / 53952148
stomach33 / 96619341
testis29 / 33044287
thymus2 / 8113124
thyroid20 / 47473421
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus75 / 232878322
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217767_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.2
Adipocyte1216.65
AdrenalCortex923.15
Adrenalgland1012.5
Amygdala146.2
Appendix1397.1
AtrioventricularNode152.6
BDCA4+_DentriticCells7.5
Bonemarrow15.6
BronchialEpithelialCells18.05
CD105+_Endothelial7.15
CD14+_Monocytes13.15
CD19+_BCells(neg._sel.)7.1
CD33+_Myeloid11.3
CD34+8.5
CD4+_Tcells7.3
CD56+_NKCells12.5
CD71+_EarlyErythroid12.25
CD8+_Tcells6.65
CardiacMyocytes55.95
Caudatenucleus166.8
Cerebellum18.8
CerebellumPeduncles32.1
CiliaryGanglion70.8
CingulateCortex16.85
Colorectaladenocarcinoma7
DorsalRootGanglion97.15
FetalThyroid427.15
Fetalbrain14.25
Fetalliver2641.15
Fetallung4925.6
GlobusPallidus20.65
Heart258.8
Hypothalamus592.9
Kidney13
Leukemia_chronicMyelogenousK-56213.75
Leukemia_promyelocytic-HL-606
Leukemialymphoblastic(MOLT-4)6.65
Liver21751.55
Lung2131.2
Lymphnode658.2
Lymphoma_burkitts(Daudi)8.55
Lymphoma_burkitts(Raji)11.75
MedullaOblongata15.6
OccipitalLobe120.75
OlfactoryBulb477.05
Ovary4990.15
Pancreas793.35
PancreaticIslet3485.55
ParietalLobe49.8
Pituitary108.8
Placenta67.05
Pons14.9
PrefrontalCortex92.75
Prostate64.15
Salivarygland475.2
SkeletalMuscle52
Skin181.5
SmoothMuscle3133.55
Spinalcord837.9
SubthalamicNucleus17.3
SuperiorCervicalGanglion12
TemporalLobe19.55
Testis18.5
TestisGermCell60.6
TestisIntersitial23.5
TestisLeydigCell32.35
TestisSeminiferousTubule90.7
Thalamus279.85
Thymus532.6
Thyroid102.8
Tongue49.4
Tonsil909.95
Trachea354.55
TrigeminalGanglion18.15
Uterus115.55
UterusCorpus14.55
WholeBlood16.55
Wholebrain104.3
colon98.9
pineal_day130.12
pineal_night57
retina434.975
small_intestine118.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P101407
  • 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
Amygdala6.64 ± 0.64
Basal Forebrain6.47 ± 0.63
Basal Part of Pons7.52 ± 0.38
Cerebellar Cortex5.8 ± 0.36
Cerebellar Nuclei7.95 ± 0.53
Claustrum6.37 ± 0.71
Epithalamus8.07 ± 0.47
Frontal Lobe6.32 ± 0.74
Globus Pallidus8.71 ± 0.44
Hypothalamus6.58 ± 1.35
Insula6.46 ± 0.46
Limbic Lobe6.13 ± 0.76
Mesencephalon6.35 ± 0.97
Myelencephalon6.49 ± 0.88
Occipital Lobe5.72 ± 0.81
Parietal Lobe6.34 ± 0.79
Pontine Tegmentum6.21 ± 0.63
Striatum7.05 ± 0.6
Subthalamus7.25 ± 0.46
Temporal Lobe6.6 ± 0.69
Thalamus6.46 ± 0.61
White Matter8.39 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C3CBCerebellum3.96
4.74
C3CTXCerebral cortex2.54
1.98
C3HIPHippocampal region2.57
2.44
C3HPFHippocampal formation2.18
2.17
C3HYHypothalamus0.33
0.92
C3LSXLateral septal complex0.44
0.3
C3MBMidbrain0.4
0.7
C3MYMedulla3.29
4.42
C3OLFOlfactory bulb3.92
4.59
C3PPons1.59
2.41
C3PALPallidum0.33
0.37
C3RHPRetrohippocampal region1.39
1.68
C3sAMYStriatum-like amygdalar nuclei3.03
2.29
C3STRStriatum1.85
1.41
C3STRdStriatum dorsal region2.07
1.56
C3STRvStriatum ventral region0.85
0.73
C3THThalamus0.74
1.47
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CO3_HUMAN_1112 23 1112 1134 QKPDGVFQEDAPVIHQEMIGGLR PRIDE
CO3_HUMAN_1112 28 1112 1139 QKPDGVFQEDAPVIHQEMIGGLRNNNEK PRIDE
CO3_HUMAN_1135 37 1135 1171 NNNEKDMALTAFVLISLQEAKDICEEQVNSLPGSITK PRIDE
CO3_HUMAN_1172 14 1172 1185 AGDFLEANYMNLQR PRIDE
CO3_HUMAN_1186 16 1186 1201 SYTVAIAGYALAQMGR PRIDE
CO3_HUMAN_1311 10 1311 1320 IHWESASLLR PRIDE
CO3_HUMAN_1321 17 1321 1337 SEETKENEGFTVTAEGK PRIDE
CO3_HUMAN_1338 14 1338 1351 GQGTLSVVTMYHAK PRIDE
CO3_HUMAN_137 12 137 148 TIYTPGSTVLYR PRIDE
CO3_HUMAN_1463 16 1463 1478 VHQYFNVELIQPGAVK PRIDE
CO3_HUMAN_1479 13 1479 1491 VYAYYNLEESCTR PRIDE
CO3_HUMAN_1523 10 1523 1532 SDDKVTLEER PRIDE
CO3_HUMAN_1536 11 1536 1546 ACEPGVDYVYK PRIDE
CO3_HUMAN_1583 7 1583 1589 TFISPIK PRIDE
CO3_HUMAN_162 15 162 176 TVMVNIENPEGIPVK PRIDE
CO3_HUMAN_208 18 208 225 AYYENSPQQVFSTEFEVK PRIDE
CO3_HUMAN_226 16 226 241 EYVLPSFEVIVEPTEK PRIDE
CO3_HUMAN_265 17 265 281 VEGTAFVIFGIQDGEQR PRIDE
CO3_HUMAN_290 15 290 304 RIPIEDGSGEVVLSR PRIDE
CO3_HUMAN_291 14 291 304 IPIEDGSGEVVLSR PRIDE
CO3_HUMAN_316 28 316 343 AEDLVGKSLYVSATVILHSGSDMVQAER PRIDE
CO3_HUMAN_323 21 323 343 SLYVSATVILHSGSDMVQAER PRIDE
CO3_HUMAN_344 16 344 359 SGIPIVTSPYQIHFTK PRIDE
CO3_HUMAN_360 27 360 386 TPKYFKPGMPFDLMVFVTNPDGSPAYR PRIDE
CO3_HUMAN_363 24 363 386 YFKPGMPFDLMVFVTNPDGSPAYR PRIDE
CO3_HUMAN_387 22 387 408 VPVAVQGEDTVQSLTQGDGVAK PRIDE
CO3_HUMAN_409 17 409 425 LSINTHPSQKPLSITVR PRIDE
CO3_HUMAN_429 11 429 439 QELSEAEQATR PRIDE
CO3_HUMAN_440 23 440 462 TMQALPYSTVGNSNNYLHLSVLR PRIDE
CO3_HUMAN_463 16 463 478 TELRPGETLNVNFLLR PRIDE
CO3_HUMAN_468 11 468 478 GETLNVNFLLR PRIDE
CO3_HUMAN_489 9 489 497 YYTYLIMNK PRIDE
CO3_HUMAN_531 14 531 544 LVAYYTLIGASGQR PRIDE
CO3_HUMAN_574 11 574 584 QPVPGQQMTLK PRIDE
CO3_HUMAN_574 19 574 592 QPVPGQQMTLKIEGDHGAR PRIDE
CO3_HUMAN_634 24 634 657 DYAGVFSDAGLTFTSSSGQQTAQR PRIDE
CO3_HUMAN_74 21 74 94 TVLTPATNHMGNVTFTIPANR PRIDE
CO3_HUMAN_749 16 749 764 SNLDEDIIAEENIVSR PRIDE
CO3_HUMAN_765 15 765 779 SEFPESWLWNVEDLK PRIDE
CO3_HUMAN_797 16 797 812 DSITTWEILAVSMSDK PRIDE
CO3_HUMAN_814 21 814 834 GICVADPFEVTVMQDFFIDLR PRIDE
CO3_HUMAN_835 7 835 841 LPYSVVR PRIDE
CO3_HUMAN_849 7 849 855 AVLYNYR PRIDE
CO3_HUMAN_864 16 864 879 VELLHNPAFCSLATTK PRIDE
CO3_HUMAN_892 13 892 904 SSLSVPYVIVPLK PRIDE
CO3_HUMAN_905 9 905 913 TGLQEVEVK PRIDE
CO3_HUMAN_914 13 914 926 AAVYHHFISDGVR PRIDE
CO3_HUMAN_914 14 914 927 AAVYHHFISDGVRK PRIDE
CO3_HUMAN_980 20 980 999 ILLQGTPVAQMTEDAVDAER PRIDE
PAp00009169 11 1536 1546 ACEPGVDYVYK 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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