AutismKB 2.0

Annotation Detail for UHRF1BP1


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Basic Information Top
Gene Symbol:UHRF1BP1 ( C6orf107,FLJ20302,ICBP90,dJ349A12.1 )
Gene Full Name: UHRF1 binding protein 1
Band: 6p21.31
Quick LinksEntrez ID:54887; OMIM: NA; Uniprot ID:URFB1_HUMAN; ENSEMBL ID: ENSG00000065060; HGNC ID: 21216
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 body4 / 7076156
blastocyst0 / 623190 
fetus13 / 56401223
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult52 / 193912126
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) tumor13 / 94178138
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal73 / 336030721
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder1 / 2975733
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye9 / 21105442
heart0 / 896260 
intestine8 / 23447234
kidney0 / 2117770 
larynx0 / 241450 
liver6 / 20774328
lung9 / 33697426
lymph0 / 442700 
lymph node5 / 9161054
mammary gland17 / 153271110
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate1 / 1893455
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach0 / 966190 
testis19 / 33044257
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P145370
  • 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
Amygdala3.43 ± 0.77
Basal Forebrain3.47 ± 0.52
Basal Part of Pons3.2 ± 0.44
Cerebellar Cortex3.84 ± 0.35
Cerebellar Nuclei3.51 ± 0.53
Claustrum3.61 ± 0.65
Epithalamus3.27 ± 0.64
Frontal Lobe3.22 ± 0.65
Globus Pallidus3.28 ± 0.34
Hypothalamus3.02 ± 0.51
Insula3.15 ± 0.91
Limbic Lobe3.16 ± 0.56
Mesencephalon3.57 ± 0.53
Myelencephalon3.34 ± 0.62
Occipital Lobe3.82 ± 0.63
Parietal Lobe3.51 ± 0.59
Pontine Tegmentum3.53 ± 0.86
Striatum3.11 ± 0.68
Subthalamus3.22 ± 0.88
Temporal Lobe3.42 ± 0.63
Thalamus3.56 ± 0.6
White Matter3.42 ± 0.77
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
F830021D11RikCBCerebellum9.08
9.39
F830021D11RikCTXCerebral cortex27.8
19.18
F830021D11RikHIPHippocampal region12.76
11.94
F830021D11RikHPFHippocampal formation17.37
14.89
F830021D11RikHYHypothalamus11.26
7.62
F830021D11RikLSXLateral septal complex3.19
2.02
F830021D11RikMBMidbrain12.65
11.36
F830021D11RikMYMedulla23.66
26.22
F830021D11RikOLFOlfactory bulb21.47
15.16
F830021D11RikPPons19.3
20.42
F830021D11RikPALPallidum10.85
8.77
F830021D11RikRHPRetrohippocampal region26.07
19.71
F830021D11RiksAMYStriatum-like amygdalar nuclei4.75
3.2
F830021D11RikSTRStriatum5.24
3.64
F830021D11RikSTRdStriatum dorsal region6.18
4.5
F830021D11RikSTRvStriatum ventral region4.07
2.44
F830021D11RikTHThalamus8.36
6.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00495639 17 470 486 VDDLDIHQVSTAGQPSK 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