AutismKB 2.0

Annotation Detail for DFFA


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Basic Information Top
Gene Symbol:DFFA ( DFF-45,DFF1,ICAD )
Gene Full Name: DNA fragmentation factor, 45kDa, alpha polypeptide
Band: 1p36.22
Quick LinksEntrez ID:1676; OMIM: 601882; Uniprot ID:DFFA_HUMAN; ENSEMBL ID: ENSG00000160049; HGNC ID: 2772
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 body9 / 70761127
blastocyst4 / 6231964
fetus13 / 56401223
neonate3 / 3109796
infant5 / 23620211
juvenile6 / 55556107
adult74 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor3 / 3436687
chondrosarcoma7 / 8282384
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor22 / 26384583
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor8 / 68959116
leukemia6 / 9584262
liver tumor8 / 9635983
lung tumor6 / 10312758
lymphoma10 / 71755139
non-neoplasia0 / 972500 
normal112 / 336030733
ovarian tumor4 / 7668252
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer4 / 10268038
retinoblastoma11 / 46356237
skin tumor14 / 124949112
soft tissue/muscle tissue tumor33 / 125191263
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood8 / 12347864
bone2 / 7165527
bone marrow5 / 48801102
brain28 / 110098925
cervix4 / 4817183
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye13 / 21105461
heart2 / 8962622
intestine14 / 23447259
kidney13 / 21177761
larynx0 / 241450 
liver17 / 20774381
lung23 / 33697468
lymph10 / 44270225
lymph node1 / 9161010
mammary gland8 / 15327152
mouth2 / 6705229
muscle26 / 107715241
nerve2 / 15768126
ovary8 / 10205178
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta9 / 28082532
prostate8 / 18934542
salivary gland1 / 2015549
skin17 / 21057480
spleen0 / 539520 
stomach14 / 96619144
testis7 / 33044221
thymus1 / 8113112
thyroid2 / 4747342
tonsil7 / 16999411
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203277_at
Cell line Expression level Expression bar
721_B_lymphoblasts100.9
Adipocyte46.6
AdrenalCortex46.95
Adrenalgland51.15
Amygdala54.1
Appendix69.2
AtrioventricularNode46.25
BDCA4+_DentriticCells25.95
Bonemarrow46
BronchialEpithelialCells57.65
CD105+_Endothelial23.85
CD14+_Monocytes40.4
CD19+_BCells(neg._sel.)39.5
CD33+_Myeloid23.15
CD34+36.55
CD4+_Tcells50.85
CD56+_NKCells28.1
CD71+_EarlyErythroid42.45
CD8+_Tcells44.65
CardiacMyocytes57.35
Caudatenucleus54.6
Cerebellum43.3
CerebellumPeduncles73.35
CiliaryGanglion32.95
CingulateCortex47.4
Colorectaladenocarcinoma55.05
DorsalRootGanglion42.3
FetalThyroid42.25
Fetalbrain52.7
Fetalliver39.8
Fetallung38.45
GlobusPallidus34.4
Heart61.7
Hypothalamus60.05
Kidney57
Leukemia_chronicMyelogenousK-56284.7
Leukemia_promyelocytic-HL-60241.4
Leukemialymphoblastic(MOLT-4)59.8
Liver62.8
Lung46.8
Lymphnode40.45
Lymphoma_burkitts(Daudi)138.75
Lymphoma_burkitts(Raji)295.95
MedullaOblongata42.6
OccipitalLobe39.6
OlfactoryBulb44.45
Ovary30.35
Pancreas37.1
PancreaticIslet61.6
ParietalLobe51.25
Pituitary54.7
Placenta47.8
Pons46.65
PrefrontalCortex56.3
Prostate81.3
Salivarygland36.5
SkeletalMuscle59.7
Skin38.1
SmoothMuscle64.9
Spinalcord57
SubthalamicNucleus41.5
SuperiorCervicalGanglion93.95
TemporalLobe54.9
Testis51.3
TestisGermCell36.8
TestisIntersitial39.8
TestisLeydigCell45.4
TestisSeminiferousTubule47.8
Thalamus70.85
Thymus46
Thyroid58.2
Tongue50.2
Tonsil46.05
Trachea43.7
TrigeminalGanglion53
Uterus37.65
UterusCorpus48.25
WholeBlood36.6
Wholebrain45.65
colon46
pineal_day57.12
pineal_night61.54
retina65.1
small_intestine44.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P222758
  • 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
Amygdala5.88 ± 0.4
Basal Forebrain6.22 ± 0.13
Basal Part of Pons6.27 ± 0.26
Cerebellar Cortex6.05 ± 0.24
Cerebellar Nuclei6.74 ± 0.26
Claustrum6.14 ± 0.54
Epithalamus5.77 ± 0.36
Frontal Lobe6.24 ± 0.3
Globus Pallidus6.7 ± 0.24
Hypothalamus6.31 ± 0.29
Insula6.08 ± 0.31
Limbic Lobe6.13 ± 0.32
Mesencephalon6.19 ± 0.39
Myelencephalon6.14 ± 0.39
Occipital Lobe5.92 ± 0.36
Parietal Lobe6.2 ± 0.32
Pontine Tegmentum6.14 ± 0.35
Striatum6.06 ± 0.28
Subthalamus6.58 ± 0.04
Temporal Lobe6.19 ± 0.29
Thalamus6.18 ± 0.29
White Matter6.45 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
DffaCBCerebellum13.95
16.49
DffaCTXCerebral cortex19.18
16.43
DffaHIPHippocampal region14.64
15.5
DffaHPFHippocampal formation13.35
13.2
DffaHYHypothalamus7.8
6.89
DffaLSXLateral septal complex3.72
3.11
DffaMBMidbrain8.62
11.02
DffaMYMedulla23.1
40.25
DffaOLFOlfactory bulb29.97
25.88
DffaPPons17.41
28.67
DffaPALPallidum8.68
9.35
DffaRHPRetrohippocampal region12.16
10.64
DffasAMYStriatum-like amygdalar nuclei7.96
6.57
DffaSTRStriatum5.96
5.06
DffaSTRdStriatum dorsal region3.91
3.26
DffaSTRvStriatum ventral region12.9
10.7
DffaTHThalamus11.34
10.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DFFA_HUMAN_1 16 1 16 MEVTGDAGVPESGEIR PRIDE
DFFA_HUMAN_163 8 163 170 QSCATVQR PRIDE
PAp00002187 14 30 43 EQHGVAASCLEDLR 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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