AutismKB 2.0

Annotation Detail for ARFIP1


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Basic Information Top
Gene Symbol:ARFIP1 ( HSU52521,MGC117369 )
Gene Full Name: ADP-ribosylation factor interacting protein 1
Band: 4q31.3
Quick LinksEntrez ID:27236; OMIM: 605928; Uniprot ID:ARFP1_HUMAN; ENSEMBL ID: ENSG00000164144; HGNC ID: 21496
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 body3 / 7076142
blastocyst5 / 6231980
fetus24 / 56401242
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult71 / 193912136
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor3 / 3436687
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor12 / 26384545
glioma5 / 10688346
head and neck tumor10 / 13630273
kidney tumor7 / 68959101
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal158 / 336030747
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites4 / 4001599
bladder2 / 2975767
blood6 / 12347848
bone2 / 7165527
bone marrow1 / 4880120
brain52 / 110098947
cervix3 / 4817162
connective tissue3 / 14925520
ear2 / 16212123
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye7 / 21105433
heart5 / 8962655
intestine11 / 23447246
kidney15 / 21177770
larynx0 / 241450 
liver7 / 20774333
lung11 / 33697432
lymph0 / 442700 
lymph node7 / 9161076
mammary gland5 / 15327132
mouth9 / 67052134
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta16 / 28082556
prostate6 / 18934531
salivary gland0 / 201550 
skin7 / 21057433
spleen3 / 5395255
stomach4 / 9661941
testis24 / 33044272
thymus10 / 81131123
thyroid1 / 4747321
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord0 / 136800 
uterus15 / 23287864
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218230_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.75
Adipocyte11.6
AdrenalCortex12.15
Adrenalgland9.65
Amygdala12.3
Appendix15.05
AtrioventricularNode12.1
BDCA4+_DentriticCells10.95
Bonemarrow11.8
BronchialEpithelialCells21.2
CD105+_Endothelial13.2
CD14+_Monocytes26.95
CD19+_BCells(neg._sel.)15.85
CD33+_Myeloid33
CD34+14.15
CD4+_Tcells10.3
CD56+_NKCells40.7
CD71+_EarlyErythroid10.8
CD8+_Tcells11.35
CardiacMyocytes14.9
Caudatenucleus9.3
Cerebellum8.2
CerebellumPeduncles12.6
CiliaryGanglion8.8
CingulateCortex10.8
Colorectaladenocarcinoma11.55
DorsalRootGanglion11.85
FetalThyroid11.35
Fetalbrain9.7
Fetalliver9.15
Fetallung11.45
GlobusPallidus8.2
Heart14.7
Hypothalamus15.45
Kidney9.4
Leukemia_chronicMyelogenousK-5629.2
Leukemia_promyelocytic-HL-6010.2
Leukemialymphoblastic(MOLT-4)8.6
Liver15.75
Lung11.4
Lymphnode11.55
Lymphoma_burkitts(Daudi)14.85
Lymphoma_burkitts(Raji)16.6
MedullaOblongata9.9
OccipitalLobe9.5
OlfactoryBulb13.05
Ovary7.75
Pancreas10.15
PancreaticIslet17.6
ParietalLobe12.7
Pituitary14.2
Placenta14.2
Pons10.7
PrefrontalCortex17.6
Prostate24.15
Salivarygland11.25
SkeletalMuscle13.15
Skin9.95
SmoothMuscle17.15
Spinalcord14.7
SubthalamicNucleus10.1
SuperiorCervicalGanglion13.25
TemporalLobe9.7
Testis9.85
TestisGermCell9.4
TestisIntersitial9.4
TestisLeydigCell11.35
TestisSeminiferousTubule8.35
Thalamus10.8
Thymus7.45
Thyroid23.9
Tongue11.7
Tonsil10.8
Trachea10.45
TrigeminalGanglion11.55
Uterus14.7
UterusCorpus12.4
WholeBlood96.3
Wholebrain7.8
colon63.6
pineal_day40.06
pineal_night27.74
retina14.975
small_intestine29.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P95050
  • 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
Amygdala4.25 ± 0.62
Basal Forebrain4.03 ± 0.48
Basal Part of Pons4.1 ± 0.55
Cerebellar Cortex3.97 ± 0.81
Cerebellar Nuclei4.26 ± 0.42
Claustrum3.98 ± 0.62
Epithalamus4.36 ± 0.76
Frontal Lobe4.1 ± 0.63
Globus Pallidus4.85 ± 0.7
Hypothalamus4.04 ± 0.91
Insula3.98 ± 0.76
Limbic Lobe4.14 ± 0.7
Mesencephalon4.13 ± 0.72
Myelencephalon4.03 ± 0.67
Occipital Lobe4.26 ± 0.7
Parietal Lobe4.11 ± 0.63
Pontine Tegmentum4.27 ± 0.56
Striatum4.32 ± 0.57
Subthalamus4.17 ± 0.85
Temporal Lobe3.99 ± 0.77
Thalamus4.04 ± 0.54
White Matter5 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arfip1CBCerebellum1.13
1.63
Arfip1CTXCerebral cortex0.86
1.02
Arfip1HIPHippocampal region0.67
0.83
Arfip1HPFHippocampal formation0.95
0.87
Arfip1HYHypothalamus0.07
0.08
Arfip1LSXLateral septal complex0.11
0.11
Arfip1MBMidbrain0.35
0.44
Arfip1MYMedulla0.84
1.01
Arfip1OLFOlfactory bulb1.33
2.01
Arfip1PPons0.54
0.51
Arfip1PALPallidum0.07
0.05
Arfip1RHPRetrohippocampal region1.39
0.96
Arfip1sAMYStriatum-like amygdalar nuclei0.37
0.25
Arfip1STRStriatum0.23
0.29
Arfip1STRdStriatum dorsal region0.28
0.41
Arfip1STRvStriatum ventral region0.11
0.08
Arfip1THThalamus0.07
0.08
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ARFP1_HUMAN_141 9 141 149 QIISEKLGR PRIDE
ARFP1_HUMAN_178 17 178 194 LAQTLSTQLFQMVHTQR PRIDE
ARFP1_HUMAN_2 24 2 25 AQESPKNSAAEIPVTSNGEVDDSR PRIDE
ARFP1_HUMAN_58 25 58 82 EGVIEAGAFQGSPAPPLPSVMSPSR PRIDE
PAp00069787 23 35 57 HSLPSGLGLSETQITSHGFDNTK 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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