AutismKB 2.0

Annotation Detail for REPIN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:REPIN1 ( AP4,RIP60,ZNF464,Zfp464 )
Gene Full Name: replication initiator 1
Band: 7q36.1
Quick LinksEntrez ID:29803; OMIM: NA; Uniprot ID:REPI1_HUMAN; ENSEMBL ID: ENSG00000214022; HGNC ID: 17922
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 body8 / 70761113
blastocyst10 / 62319160
fetus60 / 564012106
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult222 / 1939121114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor12 / 114246105
esophageal tumor1 / 1729057
gastrointestinal tumor22 / 119369184
germ cell tumor29 / 263845109
glioma42 / 106883392
head and neck tumor11 / 13630280
kidney tumor2 / 6895929
leukemia27 / 95842281
liver tumor3 / 9635931
lung tumor15 / 103127145
lymphoma6 / 7175583
non-neoplasia7 / 9725071
normal390 / 3360307116
ovarian tumor25 / 76682326
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer16 / 102680155
retinoblastoma13 / 46356280
skin tumor10 / 12494980
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites3 / 4001574
bladder1 / 2975733
blood9 / 12347872
bone2 / 7165527
bone marrow5 / 48801102
brain150 / 1100989136
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue29 / 215722134
esophagus1 / 2020949
eye45 / 211054213
heart15 / 89626167
intestine42 / 234472179
kidney21 / 21177799
larynx1 / 2414541
liver6 / 20774328
lung35 / 336974103
lymph1 / 4427022
lymph node49 / 91610534
mammary gland14 / 15327191
mouth4 / 6705259
muscle10 / 10771592
nerve2 / 15768126
ovary32 / 102051313
pancreas26 / 214812121
parathyroid6 / 20539292
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta14 / 28082549
prostate23 / 189345121
salivary gland5 / 20155248
skin23 / 210574109
spleen4 / 5395274
stomach19 / 96619196
testis26 / 33044278
thymus59 / 81131727
thyroid1 / 4747321
tonsil3 / 16999176
trachea4 / 5241376
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219041_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts443.05
Adipocyte43.25
AdrenalCortex74.1
Adrenalgland140.9
Amygdala93
Appendix31.4
AtrioventricularNode39.4
BDCA4+_DentriticCells624.2
Bonemarrow95.55
BronchialEpithelialCells25.6
CD105+_Endothelial362.35
CD14+_Monocytes159.55
CD19+_BCells(neg._sel.)285.6
CD33+_Myeloid257.45
CD34+396.55
CD4+_Tcells231.75
CD56+_NKCells283.2
CD71+_EarlyErythroid112.7
CD8+_Tcells123.65
CardiacMyocytes70.45
Caudatenucleus69.9
Cerebellum75.25
CerebellumPeduncles95.1
CiliaryGanglion22.1
CingulateCortex59.2
Colorectaladenocarcinoma212.2
DorsalRootGanglion33.05
FetalThyroid78.65
Fetalbrain90
Fetalliver77.25
Fetallung105.4
GlobusPallidus35.5
Heart270.35
Hypothalamus101.2
Kidney99.4
Leukemia_chronicMyelogenousK-562181.05
Leukemia_promyelocytic-HL-6071.7
Leukemialymphoblastic(MOLT-4)175.45
Liver199.1
Lung223.6
Lymphnode123.3
Lymphoma_burkitts(Daudi)175
Lymphoma_burkitts(Raji)129.35
MedullaOblongata54.45
OccipitalLobe71.45
OlfactoryBulb51.35
Ovary37.9
Pancreas63.5
PancreaticIslet144.2
ParietalLobe48.9
Pituitary125.35
Placenta64.3
Pons77.4
PrefrontalCortex134.9
Prostate373.5
Salivarygland69.6
SkeletalMuscle75.9
Skin60.75
SmoothMuscle63
Spinalcord97
SubthalamicNucleus57.2
SuperiorCervicalGanglion56.3
TemporalLobe73.75
Testis51.15
TestisGermCell51.15
TestisIntersitial19.9
TestisLeydigCell44.1
TestisSeminiferousTubule36.1
Thalamus107.8
Thymus338.05
Thyroid344.55
Tongue81.25
Tonsil146.45
Trachea65.5
TrigeminalGanglion53.5
Uterus92.35
UterusCorpus46.5
WholeBlood79.35
Wholebrain140.1
colon115.9
pineal_day446.36
pineal_night454
retina138.425
small_intestine94.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P145619
  • 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
Amygdala9.56 ± 0.22
Basal Forebrain10.01 ± 0.11
Basal Part of Pons9.8 ± 0.21
Cerebellar Cortex10.13 ± 0.21
Cerebellar Nuclei10.17 ± 0.14
Claustrum9.4 ± 0.27
Epithalamus10.09 ± 0.32
Frontal Lobe9.92 ± 0.28
Globus Pallidus10 ± 0.29
Hypothalamus9.92 ± 0.18
Insula9.94 ± 0.17
Limbic Lobe9.68 ± 0.23
Mesencephalon9.95 ± 0.29
Myelencephalon9.95 ± 0.28
Occipital Lobe10.12 ± 0.23
Parietal Lobe10.05 ± 0.26
Pontine Tegmentum9.95 ± 0.29
Striatum10.1 ± 0.29
Subthalamus10.13 ± 0.13
Temporal Lobe9.8 ± 0.24
Thalamus10.14 ± 0.24
White Matter10.09 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Repin1CBCerebellum26.79
32.69
Repin1CTXCerebral cortex28.69
18.45
Repin1HIPHippocampal region15.97
13.98
Repin1HPFHippocampal formation21.98
17.57
Repin1HYHypothalamus4.6
3.14
Repin1LSXLateral septal complex6.2
4.46
Repin1MBMidbrain11.82
10.34
Repin1MYMedulla15.3
14.24
Repin1OLFOlfactory bulb35.57
26.42
Repin1PPons12.57
11.43
Repin1PALPallidum7.41
5.73
Repin1RHPRetrohippocampal region35.06
24.75
Repin1sAMYStriatum-like amygdalar nuclei23.64
15.02
Repin1STRStriatum15.69
10.31
Repin1STRdStriatum dorsal region15.82
10.58
Repin1STRvStriatum ventral region14.48
8.91
Repin1THThalamus16.24
12.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00070384 15 480 494 IHTGEKPYVCPDCGK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved