AutismKB 2.0

Annotation Detail for LIG1


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Basic Information Top
Gene Symbol:LIG1 ( MGC117397,MGC130025 )
Gene Full Name: ligase I, DNA, ATP-dependent
Band: 19q13.33
Quick LinksEntrez ID:3978; OMIM: 126391; Uniprot ID:DNLI1_HUMAN; ENSEMBL ID: ENSG00000105486; HGNC ID: 6598
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 body5 / 7076170
blastocyst13 / 62319208
fetus47 / 56401283
neonate1 / 3109732
infant0 / 236200 
juvenile5 / 5555689
adult114 / 193912158
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) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor28 / 263845106
glioma5 / 10688346
head and neck tumor8 / 13630258
kidney tumor2 / 6895929
leukemia18 / 95842187
liver tumor13 / 96359134
lung tumor5 / 10312748
lymphoma10 / 71755139
non-neoplasia2 / 9725020
normal192 / 336030757
ovarian tumor6 / 7668278
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer5 / 10268048
retinoblastoma9 / 46356194
skin tumor11 / 12494988
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites5 / 40015124
bladder0 / 297570 
blood16 / 123478129
bone2 / 7165527
bone marrow3 / 4880161
brain51 / 110098946
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue25 / 215722115
esophagus0 / 202090 
eye17 / 21105480
heart5 / 8962655
intestine22 / 23447293
kidney5 / 21177723
larynx4 / 24145165
liver16 / 20774377
lung15 / 33697444
lymph7 / 44270158
lymph node4 / 9161043
mammary gland8 / 15327152
mouth3 / 6705244
muscle16 / 107715148
nerve1 / 1576863
ovary6 / 10205158
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta21 / 28082574
prostate9 / 18934547
salivary gland0 / 201550 
skin12 / 21057456
spleen2 / 5395237
stomach5 / 9661951
testis32 / 33044296
thymus19 / 81131234
thyroid1 / 4747321
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord2 / 13680146
uterus8 / 23287834
vascular5 / 5178096
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202726_at
Cell line Expression level Expression bar
721_B_lymphoblasts113.2
Adipocyte3.95
AdrenalCortex4.25
Adrenalgland3.4
Amygdala4.25
Appendix4.1
AtrioventricularNode3.05
BDCA4+_DentriticCells6.45
Bonemarrow4.05
BronchialEpithelialCells4
CD105+_Endothelial117.5
CD14+_Monocytes4.3
CD19+_BCells(neg._sel.)9.55
CD33+_Myeloid5.25
CD34+46.4
CD4+_Tcells24.75
CD56+_NKCells10.65
CD71+_EarlyErythroid93.25
CD8+_Tcells21.25
CardiacMyocytes5.2
Caudatenucleus3.6
Cerebellum3.3
CerebellumPeduncles4.6
CiliaryGanglion2.8
CingulateCortex4.15
Colorectaladenocarcinoma6.95
DorsalRootGanglion3.05
FetalThyroid4
Fetalbrain4.15
Fetalliver3.55
Fetallung3.45
GlobusPallidus2.9
Heart5.1
Hypothalamus4.5
Kidney3.25
Leukemia_chronicMyelogenousK-5627.7
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)56.4
Liver5.3
Lung4.45
Lymphnode4.75
Lymphoma_burkitts(Daudi)25.05
Lymphoma_burkitts(Raji)6
MedullaOblongata3.7
OccipitalLobe3.65
OlfactoryBulb3.2
Ovary2.65
Pancreas3.25
PancreaticIslet4.35
ParietalLobe4.3
Pituitary4.75
Placenta4.4
Pons3.85
PrefrontalCortex5.05
Prostate4.8
Salivarygland3.2
SkeletalMuscle4.65
Skin3.05
SmoothMuscle4.65
Spinalcord4.35
SubthalamicNucleus3.65
SuperiorCervicalGanglion4.5
TemporalLobe3.65
Testis3.5
TestisGermCell4.85
TestisIntersitial3.4
TestisLeydigCell4.05
TestisSeminiferousTubule3.85
Thalamus4.15
Thymus4.65
Thyroid5.2
Tongue3.9
Tonsil4.05
Trachea3.4
TrigeminalGanglion4
Uterus3.35
UterusCorpus3.65
WholeBlood4.5
Wholebrain3.45
colon4.2
pineal_day5.44
pineal_night5
retina4.925
small_intestine3.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15046_PI416261804
  • 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
Amygdala5.63 ± 0.28
Basal Forebrain5.77 ± 0.31
Basal Part of Pons6.36 ± 0.21
Cerebellar Cortex6.12 ± 0.3
Cerebellar Nuclei6.2 ± 0.42
Claustrum5.36 ± 0.6
Epithalamus6 ± 0.6
Frontal Lobe5.77 ± 0.41
Globus Pallidus5.78 ± 0.23
Hypothalamus5.81 ± 0.7
Insula5.86 ± 0.36
Limbic Lobe5.56 ± 0.43
Mesencephalon5.76 ± 0.39
Myelencephalon5.8 ± 0.44
Occipital Lobe5.56 ± 0.38
Parietal Lobe5.68 ± 0.34
Pontine Tegmentum5.62 ± 0.38
Striatum5.48 ± 0.34
Subthalamus5.99 ± 0.35
Temporal Lobe5.94 ± 0.37
Thalamus5.71 ± 0.39
White Matter6.68 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lig1CBCerebellum9.86
12.25
Lig1CTXCerebral cortex32.93
26.15
Lig1HIPHippocampal region28.37
31.92
Lig1HPFHippocampal formation18.71
18.23
Lig1HYHypothalamus35.99
29.99
Lig1LSXLateral septal complex12.44
9.78
Lig1MBMidbrain19.03
15.52
Lig1MYMedulla34.18
37.52
Lig1OLFOlfactory bulb37.43
31.46
Lig1PPons25.08
24.78
Lig1PALPallidum23.51
20.13
Lig1RHPRetrohippocampal region60.61
48.76
Lig1sAMYStriatum-like amygdalar nuclei45.17
33.26
Lig1STRStriatum17.74
13.01
Lig1STRdStriatum dorsal region35.74
26.49
Lig1STRvStriatum ventral region36.95
25.22
Lig1THThalamus19.97
16.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DNLI1_HUMAN_573 24 573 596 AQIHALEGGEVKIFSRNQEDNTGK PRIDE
PAp00008568 21 878 898 VREDKQPEQATTSAQVACLYR 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