AutismKB 2.0

Annotation Detail for MLH1


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Basic Information Top
Gene Symbol:MLH1 ( COCA2,FCC2,HNPCC,HNPCC2,MGC5172,hMLH1 )
Gene Full Name: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Band: 3p22.2
Quick LinksEntrez ID:4292; OMIM: 120436; Uniprot ID:MLH1_HUMAN; ENSEMBL ID: ENSG00000076242; HGNC ID: 7127
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
fetus42 / 56401274
neonate10 / 31097321
infant2 / 2362084
juvenile13 / 55556233
adult166 / 193912185
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) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor5 / 11424643
esophageal tumor5 / 17290289
gastrointestinal tumor7 / 11936958
germ cell tumor45 / 263845170
glioma5 / 10688346
head and neck tumor7 / 13630251
kidney tumor10 / 68959145
leukemia6 / 9584262
liver tumor7 / 9635972
lung tumor3 / 10312729
lymphoma16 / 71755222
non-neoplasia5 / 9725051
normal286 / 336030785
ovarian tumor2 / 7668226
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer6 / 10268058
retinoblastoma3 / 4635664
skin tumor12 / 12494996
soft tissue/muscle tissue tumor38 / 125191303
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites3 / 4001574
bladder3 / 29757100
blood14 / 123478113
bone8 / 71655111
bone marrow1 / 4880120
brain86 / 110098978
cervix3 / 4817162
connective tissue44 / 149255294
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus6 / 20209296
eye17 / 21105480
heart6 / 8962666
intestine17 / 23447272
kidney27 / 211777127
larynx0 / 241450 
liver13 / 20774362
lung17 / 33697450
lymph12 / 44270271
lymph node2 / 9161021
mammary gland7 / 15327145
mouth5 / 6705274
muscle8 / 10771574
nerve1 / 1576863
ovary4 / 10205139
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta23 / 28082581
prostate15 / 18934579
salivary gland2 / 2015599
skin27 / 210574128
spleen9 / 53952166
stomach5 / 9661951
testis58 / 330442175
thymus5 / 8113161
thyroid3 / 4747363
tonsil4 / 16999235
trachea2 / 5241338
umbilical cord1 / 1368073
uterus19 / 23287881
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202520_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts702.55
Adipocyte47.65
AdrenalCortex15.45
Adrenalgland20.75
Amygdala46.9
Appendix19.65
AtrioventricularNode10.85
BDCA4+_DentriticCells190.15
Bonemarrow39.4
BronchialEpithelialCells66.9
CD105+_Endothelial677.55
CD14+_Monocytes89.75
CD19+_BCells(neg._sel.)136.95
CD33+_Myeloid192
CD34+593.2
CD4+_Tcells94
CD56+_NKCells231.95
CD71+_EarlyErythroid550.2
CD8+_Tcells75.8
CardiacMyocytes39.5
Caudatenucleus25.2
Cerebellum14.9
CerebellumPeduncles21.65
CiliaryGanglion10.4
CingulateCortex25.25
Colorectaladenocarcinoma38.55
DorsalRootGanglion15.55
FetalThyroid21.75
Fetalbrain42.1
Fetalliver93.7
Fetallung48.8
GlobusPallidus13.6
Heart20.75
Hypothalamus72.95
Kidney13.9
Leukemia_chronicMyelogenousK-562139.2
Leukemia_promyelocytic-HL-60253.7
Leukemialymphoblastic(MOLT-4)285.25
Liver15.7
Lung29.95
Lymphnode44.3
Lymphoma_burkitts(Daudi)161.9
Lymphoma_burkitts(Raji)70.8
MedullaOblongata38.25
OccipitalLobe28.25
OlfactoryBulb24.8
Ovary14.9
Pancreas14.8
PancreaticIslet35
ParietalLobe23.95
Pituitary111.85
Placenta45.4
Pons17.4
PrefrontalCortex38.55
Prostate42.5
Salivarygland16.85
SkeletalMuscle52.5
Skin11.15
SmoothMuscle39.1
Spinalcord45.55
SubthalamicNucleus16.55
SuperiorCervicalGanglion39.5
TemporalLobe22.25
Testis139.55
TestisGermCell102.75
TestisIntersitial101.95
TestisLeydigCell68.65
TestisSeminiferousTubule57.1
Thalamus28.8
Thymus59.5
Thyroid90.8
Tongue18.3
Tonsil49.95
Trachea21.85
TrigeminalGanglion22
Uterus35.95
UterusCorpus25.05
WholeBlood33.5
Wholebrain33.9
colon37.5
pineal_day96.82
pineal_night126.5
retina57.05
small_intestine46.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16852_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
Amygdala6.84 ± 0.54
Basal Forebrain7.27 ± 0.17
Basal Part of Pons7.33 ± 0.44
Cerebellar Cortex7.64 ± 0.21
Cerebellar Nuclei7.44 ± 0.4
Claustrum6.48 ± 0.67
Epithalamus7.65 ± 0.46
Frontal Lobe7.37 ± 0.37
Globus Pallidus7.23 ± 0.34
Hypothalamus7.5 ± 0.45
Insula7.34 ± 0.38
Limbic Lobe7.02 ± 0.54
Mesencephalon7.17 ± 0.48
Myelencephalon7.2 ± 0.46
Occipital Lobe6.83 ± 0.46
Parietal Lobe7.06 ± 0.46
Pontine Tegmentum7.22 ± 0.47
Striatum6.97 ± 0.41
Subthalamus7.42 ± 0.1
Temporal Lobe7.31 ± 0.38
Thalamus7.19 ± 0.34
White Matter8.09 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mlh1CBCerebellum4.18
4.95
Mlh1CTXCerebral cortex11.91
9.06
Mlh1HIPHippocampal region11.46
10.93
Mlh1HPFHippocampal formation7.66
6.84
Mlh1HYHypothalamus0.28
0.18
Mlh1LSXLateral septal complex1.37
1.52
Mlh1MBMidbrain1.48
1.48
Mlh1MYMedulla1.83
1.98
Mlh1OLFOlfactory bulb6.44
5.63
Mlh1PPons2.51
2.9
Mlh1PALPallidum0.48
0.35
Mlh1RHPRetrohippocampal region1.51
1.24
Mlh1sAMYStriatum-like amygdalar nuclei2.71
1.86
Mlh1STRStriatum2.98
3.2
Mlh1STRdStriatum dorsal region3.49
4.17
Mlh1STRvStriatum ventral region1.37
0.81
Mlh1THThalamus3.08
3.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MLH1_HUMAN_168 15 168 182 NPSEEYGKILEVVGR PRIDE
MLH1_HUMAN_206 12 206 217 TLPNASTVDNIR PRIDE
MLH1_HUMAN_334 8 334 341 LLGSNSSR PRIDE
MLH1_HUMAN_342 20 342 361 MYFTQTLLPGLAGPSGEMVK PRIDE
MLH1_HUMAN_362 16 362 377 STTSLTSSSTSGSSDK PRIDE
MLH1_HUMAN_378 8 378 385 VYAHQMVR PRIDE
MLH1_HUMAN_417 7 417 423 TDISSGR PRIDE
MLH1_HUMAN_426 18 426 443 QQDEEMLELPAPAEVAAK PRIDE
MLH1_HUMAN_555 21 555 575 LSEELFYQILIYDFANFGVLR PRIDE
MLH1_HUMAN_58 12 58 69 LIQIQDNGTGIR PRIDE
MLH1_HUMAN_671 8 671 678 ECFESLSK PRIDE
PAp00024974 24 523 546 EMLHNHSFVGCVNPQWALAQHQTK 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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