AutismKB 2.0

Annotation Detail for ZFC3H1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ZFC3H1 ( CCDC131,DKFZp686A0722,KIAA0546,MGC23401,MGC90200,PSRC2 )
Gene Full Name: zinc finger, C3H1-type containing
Band: 12q21.1
Quick LinksEntrez ID:196441; OMIM: NA; Uniprot ID:ZC3H1_HUMAN; ENSEMBL ID: ENSG00000133858; HGNC ID: 28328
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 body6 / 7076184
blastocyst3 / 6231948
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult62 / 193912131
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal124 / 336030736
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood3 / 12347824
bone1 / 7165513
bone marrow0 / 488010 
brain19 / 110098917
cervix1 / 4817120
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye4 / 21105418
heart2 / 8962622
intestine5 / 23447221
kidney7 / 21177733
larynx1 / 2414541
liver7 / 20774333
lung7 / 33697420
lymph1 / 4427022
lymph node7 / 9161076
mammary gland2 / 15327113
mouth1 / 6705214
muscle7 / 10771564
nerve3 / 15768190
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach5 / 9661951
testis15 / 33044245
thymus5 / 8113161
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213065_at
Cell line Expression level Expression bar
721_B_lymphoblasts122.1
Adipocyte52.3
AdrenalCortex54.95
Adrenalgland33.05
Amygdala31.35
Appendix38.8
AtrioventricularNode33.85
BDCA4+_DentriticCells188.5
Bonemarrow33.3
BronchialEpithelialCells44.65
CD105+_Endothelial33.8
CD14+_Monocytes79.15
CD19+_BCells(neg._sel.)176.5
CD33+_Myeloid99.6
CD34+63.15
CD4+_Tcells455
CD56+_NKCells164.85
CD71+_EarlyErythroid23
CD8+_Tcells400.55
CardiacMyocytes36.25
Caudatenucleus38.4
Cerebellum29.1
CerebellumPeduncles39.7
CiliaryGanglion26.5
CingulateCortex43.6
Colorectaladenocarcinoma25.3
DorsalRootGanglion26.3
FetalThyroid83.45
Fetalbrain120.4
Fetalliver37.25
Fetallung139.8
GlobusPallidus30.65
Heart33.45
Hypothalamus69.15
Kidney27.7
Leukemia_chronicMyelogenousK-562105.55
Leukemia_promyelocytic-HL-60134.15
Leukemialymphoblastic(MOLT-4)123.25
Liver39.95
Lung28.05
Lymphnode162.45
Lymphoma_burkitts(Daudi)192.15
Lymphoma_burkitts(Raji)47.55
MedullaOblongata37.7
OccipitalLobe52.45
OlfactoryBulb48.4
Ovary47.45
Pancreas52.3
PancreaticIslet62.15
ParietalLobe40.4
Pituitary52.75
Placenta29.7
Pons30.75
PrefrontalCortex88.05
Prostate42.25
Salivarygland96.65
SkeletalMuscle25.75
Skin30.35
SmoothMuscle70.05
Spinalcord73.35
SubthalamicNucleus34.8
SuperiorCervicalGanglion44.05
TemporalLobe33.95
Testis35.3
TestisGermCell89.05
TestisIntersitial75.1
TestisLeydigCell82
TestisSeminiferousTubule96.1
Thalamus53.1
Thymus41.3
Thyroid42.35
Tongue35.35
Tonsil60.1
Trachea31.4
TrigeminalGanglion28.25
Uterus45.4
UterusCorpus35
WholeBlood122.6
Wholebrain19.9
colon29.3
pineal_day112.32
pineal_night78.64
retina53.65
small_intestine36.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P332908
  • 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
Amygdala8.38 ± 0.21
Basal Forebrain8.4 ± 0.14
Basal Part of Pons8.13 ± 0.18
Cerebellar Cortex8.51 ± 0.17
Cerebellar Nuclei8.03 ± 0.26
Claustrum8.43 ± 0.25
Epithalamus8.16 ± 0.14
Frontal Lobe8.13 ± 0.27
Globus Pallidus8.45 ± 0.26
Hypothalamus8.01 ± 0.16
Insula8.21 ± 0.23
Limbic Lobe8.39 ± 0.33
Mesencephalon8.24 ± 0.25
Myelencephalon8.27 ± 0.25
Occipital Lobe8.59 ± 0.33
Parietal Lobe8.29 ± 0.23
Pontine Tegmentum8.23 ± 0.28
Striatum8.41 ± 0.33
Subthalamus7.98 ± 0.05
Temporal Lobe8.27 ± 0.24
Thalamus8.22 ± 0.2
White Matter9.25 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc131CBCerebellum9.65
9.03
Ccdc131CTXCerebral cortex5.02
3.5
Ccdc131HIPHippocampal region12.44
13.12
Ccdc131HPFHippocampal formation8.54
8.17
Ccdc131HYHypothalamus0.57
0.42
Ccdc131LSXLateral septal complex0.59
0.42
Ccdc131MBMidbrain1.17
1.11
Ccdc131MYMedulla2.49
2.27
Ccdc131OLFOlfactory bulb8.61
6.15
Ccdc131PPons2.02
1.95
Ccdc131PALPallidum0.92
0.8
Ccdc131RHPRetrohippocampal region2.19
1.5
Ccdc131sAMYStriatum-like amygdalar nuclei0.34
0.18
Ccdc131STRStriatum0.68
0.5
Ccdc131STRdStriatum dorsal region0.57
0.43
Ccdc131STRvStriatum ventral region1.26
0.86
Ccdc131THThalamus1.4
1.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ZC3H1_HUMAN_1002 29 1002 1030 EQQNISPVVEEEPEFSLPQPSLHDLTQDK PRIDE
ZC3H1_HUMAN_955 10 955 964 LDSSPVSSPR PRIDE

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