AutismKB 2.0

Annotation Detail for UFD1L


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:UFD1L ( UFD1 )
Gene Full Name: ubiquitin fusion degradation 1 like (yeast)
Band: 22q11.21
Quick LinksEntrez ID:7353; OMIM: 601754; Uniprot ID:UFD1_HUMAN; ENSEMBL ID: ENSG00000070010; HGNC ID:
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
blastocyst3 / 6231948
fetus39 / 56401269
neonate4 / 31097128
infant1 / 2362042
juvenile9 / 55556161
adult121 / 193912162
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma5 / 17475286
breast (mammary gland) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma10 / 82823120
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor5 / 26384518
glioma9 / 10688384
head and neck tumor8 / 13630258
kidney tumor2 / 6895929
leukemia11 / 95842114
liver tumor7 / 9635972
lung tumor6 / 10312758
lymphoma8 / 71755111
non-neoplasia1 / 9725010
normal226 / 336030767
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor19 / 124949152
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites3 / 4001574
bladder5 / 29757168
blood11 / 12347889
bone7 / 7165597
bone marrow2 / 4880140
brain55 / 110098949
cervix4 / 4817183
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye11 / 21105452
heart13 / 89626145
intestine18 / 23447276
kidney6 / 21177728
larynx1 / 2414541
liver11 / 20774352
lung27 / 33697480
lymph1 / 4427022
lymph node2 / 9161021
mammary gland6 / 15327139
mouth3 / 6705244
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas37 / 214812172
parathyroid5 / 20539243
pharynx9 / 41328217
pituitary gland1 / 1658560
placenta16 / 28082556
prostate11 / 18934558
salivary gland0 / 201550 
skin22 / 210574104
spleen1 / 5395218
stomach8 / 9661982
testis21 / 33044263
thymus3 / 8113136
thyroid3 / 4747363
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord4 / 13680292
uterus22 / 23287894
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209103_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts531.6
Adipocyte188.55
AdrenalCortex54.05
Adrenalgland42.55
Amygdala57.65
Appendix71.95
AtrioventricularNode29.85
BDCA4+_DentriticCells372.75
Bonemarrow68.6
BronchialEpithelialCells451.5
CD105+_Endothelial105.1
CD14+_Monocytes333.55
CD19+_BCells(neg._sel.)351.65
CD33+_Myeloid142.9
CD34+176.45
CD4+_Tcells180.1
CD56+_NKCells415.15
CD71+_EarlyErythroid190.8
CD8+_Tcells175.35
CardiacMyocytes313.55
Caudatenucleus38.5
Cerebellum38.4
CerebellumPeduncles68.45
CiliaryGanglion32.4
CingulateCortex38.8
Colorectaladenocarcinoma121.8
DorsalRootGanglion31
FetalThyroid84.1
Fetalbrain71.25
Fetalliver56.55
Fetallung82.4
GlobusPallidus25.45
Heart94.75
Hypothalamus86.2
Kidney37
Leukemia_chronicMyelogenousK-562877
Leukemia_promyelocytic-HL-6078.95
Leukemialymphoblastic(MOLT-4)267.1
Liver69
Lung92.7
Lymphnode49.25
Lymphoma_burkitts(Daudi)112.4
Lymphoma_burkitts(Raji)58.5
MedullaOblongata42.35
OccipitalLobe56.75
OlfactoryBulb49.7
Ovary36.4
Pancreas57.1
PancreaticIslet176.7
ParietalLobe47.85
Pituitary76.25
Placenta264.1
Pons40.7
PrefrontalCortex70.45
Prostate103.35
Salivarygland39.15
SkeletalMuscle70.85
Skin35.8
SmoothMuscle605.45
Spinalcord69.45
SubthalamicNucleus28.45
SuperiorCervicalGanglion59.35
TemporalLobe34.45
Testis238.35
TestisGermCell191.35
TestisIntersitial136.55
TestisLeydigCell167.25
TestisSeminiferousTubule131.5
Thalamus49.35
Thymus140.9
Thyroid166.85
Tongue64.75
Tonsil79.25
Trachea59.75
TrigeminalGanglion54.45
Uterus57.85
UterusCorpus70.9
WholeBlood180.2
Wholebrain39.95
colon139.1
pineal_day78
pineal_night108.16
retina126.175
small_intestine173.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P166333
  • 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
Amygdala7.09 ± 0.37
Basal Forebrain7.27 ± 0.13
Basal Part of Pons7.47 ± 0.16
Cerebellar Cortex7.4 ± 0.25
Cerebellar Nuclei7.53 ± 0.14
Claustrum7.07 ± 0.37
Epithalamus7.35 ± 0.21
Frontal Lobe7.45 ± 0.27
Globus Pallidus7.56 ± 0.18
Hypothalamus7.66 ± 0.15
Insula7.41 ± 0.38
Limbic Lobe7.29 ± 0.4
Mesencephalon7.27 ± 0.37
Myelencephalon7.31 ± 0.33
Occipital Lobe7.05 ± 0.33
Parietal Lobe7.29 ± 0.29
Pontine Tegmentum7.4 ± 0.35
Striatum7.25 ± 0.34
Subthalamus7.69 ± 0.18
Temporal Lobe7.34 ± 0.28
Thalamus7.26 ± 0.19
White Matter7.98 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ufd1lCBCerebellum4.54
4.97
Ufd1lCTXCerebral cortex10.02
6.92
Ufd1lHIPHippocampal region13.33
13.11
Ufd1lHPFHippocampal formation13.54
11.73
Ufd1lHYHypothalamus3.23
2.3
Ufd1lLSXLateral septal complex2.26
1.45
Ufd1lMBMidbrain6.53
5.36
Ufd1lMYMedulla11.47
11.1
Ufd1lOLFOlfactory bulb8.31
6.37
Ufd1lPPons10.35
9.83
Ufd1lPALPallidum3.72
2.65
Ufd1lRHPRetrohippocampal region14.11
9.96
Ufd1lsAMYStriatum-like amygdalar nuclei1.42
0.88
Ufd1lSTRStriatum3.74
3.03
Ufd1lSTRdStriatum dorsal region4.65
4.24
Ufd1lSTRvStriatum ventral region3.2
1.76
Ufd1lTHThalamus4.71
3.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00067648 15 125 139 FQPQSPDFLDITNPK Peptide Atlas
UFD1_HUMAN_1 13 1 13 MFSFNMFDHPIPR PRIDE
UFD1_HUMAN_238 24 238 261 QVQHEESTEGEADHSGYAGELGFR PRIDE
UFD1_HUMAN_46 13 46 58 IIMPPSALDQLSR 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


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