AutismKB 2.0

Annotation Detail for PLEC


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Basic Information Top
Gene Symbol:PLEC ( EBS1,EBSO,HD1,PCN,PLEC1,PLEC1b,PLTN )
Gene Full Name: plectin
Band: 8q24.3
Quick LinksEntrez ID:5339; OMIM: 601282; Uniprot ID:PLEC_HUMAN; ENSEMBL ID: ENSG00000178209; HGNC ID: 9069
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 body12 / 70761169
blastocyst2 / 6231932
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile9 / 55556161
adult250 / 1939121128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma7 / 17475400
breast (mammary gland) tumor17 / 94178180
cervical tumor0 / 343660 
chondrosarcoma15 / 82823181
colorectal tumor39 / 114246341
esophageal tumor2 / 17290115
gastrointestinal tumor14 / 119369117
germ cell tumor6 / 26384522
glioma16 / 106883149
head and neck tumor13 / 13630295
kidney tumor5 / 6895972
leukemia10 / 95842104
liver tumor1 / 9635910
lung tumor8 / 10312777
lymphoma5 / 7175569
non-neoplasia10 / 97250102
normal243 / 336030772
ovarian tumor8 / 76682104
pancreatic tumor54 / 104616516
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer18 / 102680175
retinoblastoma1 / 4635621
skin tumor51 / 124949408
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites5 / 40015124
bladder8 / 29757268
blood8 / 12347864
bone10 / 71655139
bone marrow2 / 4880140
brain44 / 110098939
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus2 / 2020998
eye24 / 211054113
heart7 / 8962678
intestine55 / 234472234
kidney9 / 21177742
larynx8 / 24145331
liver2 / 2077439
lung36 / 336974106
lymph5 / 44270112
lymph node18 / 91610196
mammary gland25 / 153271163
mouth2 / 6705229
muscle15 / 107715139
nerve12 / 15768761
ovary16 / 102051156
pancreas66 / 214812307
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta20 / 28082571
prostate22 / 189345116
salivary gland0 / 201550 
skin60 / 210574284
spleen2 / 5395237
stomach18 / 96619186
testis6 / 33044218
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus19 / 23287881
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216971_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.7
Adipocyte6.2
AdrenalCortex6.1
Adrenalgland4.65
Amygdala12
Appendix5.75
AtrioventricularNode4.35
BDCA4+_DentriticCells12.1
Bonemarrow6
BronchialEpithelialCells62.3
CD105+_Endothelial5.45
CD14+_Monocytes9.4
CD19+_BCells(neg._sel.)5.9
CD33+_Myeloid22.5
CD34+6.6
CD4+_Tcells20.5
CD56+_NKCells6.45
CD71+_EarlyErythroid7.1
CD8+_Tcells12
CardiacMyocytes8.15
Caudatenucleus5.5
Cerebellum4.45
CerebellumPeduncles6.25
CiliaryGanglion4
CingulateCortex5.65
Colorectaladenocarcinoma136.95
DorsalRootGanglion4.2
FetalThyroid5.3
Fetalbrain5.35
Fetalliver4.75
Fetallung8
GlobusPallidus4
Heart7.55
Hypothalamus5.9
Kidney4.6
Leukemia_chronicMyelogenousK-5624.9
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.25
Liver9.9
Lung73.8
Lymphnode4.85
Lymphoma_burkitts(Daudi)7
Lymphoma_burkitts(Raji)8.25
MedullaOblongata4.85
OccipitalLobe4.85
OlfactoryBulb4.3
Ovary3.8
Pancreas4.45
PancreaticIslet5.85
ParietalLobe5.85
Pituitary6.35
Placenta34.05
Pons5.2
PrefrontalCortex23.65
Prostate17.15
Salivarygland4.35
SkeletalMuscle8.3
Skin4.2
SmoothMuscle6.95
Spinalcord7
SubthalamicNucleus5
SuperiorCervicalGanglion6.4
TemporalLobe5.05
Testis4.55
TestisGermCell4.3
TestisIntersitial4.6
TestisLeydigCell5.35
TestisSeminiferousTubule4.65
Thalamus5.55
Thymus15.65
Thyroid12.85
Tongue5.75
Tonsil5.8
Trachea4.6
TrigeminalGanglion5.6
Uterus5.85
UterusCorpus4.95
WholeBlood18.3
Wholebrain4.6
colon6.1
pineal_day8.56
pineal_night7.36
retina9.925
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P914759
  • 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
Amygdala3.61 ± 0.83
Basal Forebrain3.66 ± 0.53
Basal Part of Pons2.97 ± 0.38
Cerebellar Cortex3.27 ± 0.81
Cerebellar Nuclei3.52 ± 0.82
Claustrum4.69 ± 0.58
Epithalamus3.39 ± 0.66
Frontal Lobe3.2 ± 0.74
Globus Pallidus3.89 ± 0.76
Hypothalamus3 ± 0.81
Insula3.17 ± 0.77
Limbic Lobe3.21 ± 0.7
Mesencephalon3.35 ± 0.67
Myelencephalon3.24 ± 0.71
Occipital Lobe3.24 ± 0.78
Parietal Lobe3.28 ± 0.79
Pontine Tegmentum3.37 ± 0.76
Striatum3.2 ± 0.71
Subthalamus3.03 ± 0.48
Temporal Lobe3.17 ± 0.71
Thalamus3.18 ± 0.71
White Matter4.28 ± 0.73
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plec1CBCerebellum0.46
1.11
Plec1CTXCerebral cortex2.2
1.99
Plec1HIPHippocampal region4.62
5.35
Plec1HPFHippocampal formation3.49
3.78
Plec1HYHypothalamus1.53
1.75
Plec1LSXLateral septal complex0.03
0
Plec1MBMidbrain0.48
0.88
Plec1MYMedulla0.11
0.28
Plec1OLFOlfactory bulb2.55
3.04
Plec1PPons0.3
1.05
Plec1PALPallidum5.13
7.3
Plec1RHPRetrohippocampal region1.13
1.09
Plec1sAMYStriatum-like amygdalar nuclei6.1
5.19
Plec1STRStriatum2.1
2.12
Plec1STRdStriatum dorsal region1.01
0.99
Plec1STRvStriatum ventral region4.43
4.49
Plec1THThalamus5.5
5.28
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000306 9 4492 4500 AFCGFEDPR Peptide Atlas
Q8WXV5_HUMAN_0 0 0 0 AALAHSEEVTASQVAATK PRIDE
Q8WXV5_HUMAN_0 0 0 0 AGVVGPELHEQLLSAEK PRIDE
Q8WXV5_HUMAN_0 0 0 0 APVPASELLASGVLSR PRIDE
Q8WXV5_HUMAN_0 0 0 0 DGHNLISLLEVLSGDSLPR PRIDE
Q8WXV5_HUMAN_0 0 0 0 DLDKADSMIR PRIDE
Q8WXV5_HUMAN_0 0 0 0 ELIPTEEALR PRIDE
Q8WXV5_HUMAN_0 0 0 0 ESADPLGAWLQDAR PRIDE
Q8WXV5_HUMAN_0 0 0 0 GFFDPNTHENLTYLQLLER PRIDE
Q8WXV5_HUMAN_0 0 0 0 GGAEGELQALR PRIDE
Q8WXV5_HUMAN_0 0 0 0 IIITVVEEQEQK PRIDE
Q8WXV5_HUMAN_0 0 0 0 IISLETYNLLR PRIDE
Q8WXV5_HUMAN_0 0 0 0 LGFHLPLEVAYQR PRIDE
Q8WXV5_HUMAN_0 0 0 0 LLDAQLATGGIVDPR PRIDE
Q8WXV5_HUMAN_0 0 0 0 LLFNDVQTLK PRIDE
Q8WXV5_HUMAN_0 0 0 0 LQEAGILSAEELQR PRIDE
Q8WXV5_HUMAN_0 0 0 0 LQNVQIALDYLR PRIDE
Q8WXV5_HUMAN_0 0 0 0 LTAEDLFEAR PRIDE
Q8WXV5_HUMAN_0 0 0 0 MVEGYQGLR PRIDE
Q8WXV5_HUMAN_0 0 0 0 SELELTLGKLEQVR PRIDE
Q8WXV5_HUMAN_0 0 0 0 SHRVPLDVACAR PRIDE
Q8WXV5_HUMAN_0 0 0 0 SIQEELQQLR PRIDE
Q8WXV5_HUMAN_0 0 0 0 SLVPAAELLESR PRIDE
Q8WXV5_HUMAN_0 0 0 0 VDGAEWGVDLPSVEAQLGSHR PRIDE
Q8WXV5_HUMAN_0 0 0 0 WQAVLAQTDVR PRIDE
Q8WXV5_HUMAN_1061 15 1061 1075 QALHSLELHYQAFLR PRIDE
Q8WXV5_HUMAN_1202 14 1202 1215 SELELTLGKLEQVR PRIDE
Q8WXV5_HUMAN_1366 17 1366 1382 RQEQIQAMPLADSQAVR PRIDE
Q8WXV5_HUMAN_1367 16 1367 1382 QEQIQAMPLADSQAVR PRIDE
Q8WXV5_HUMAN_1387 11 1387 1397 QEQALLEEIER PRIDE
Q8WXV5_HUMAN_1428 11 1428 1438 AQLEPVASPAK PRIDE
Q8WXV5_HUMAN_1511 15 1511 1525 QLAEAHAQAKAQAER PRIDE
Q8WXV5_HUMAN_1628 8 1628 1635 QAQEEAER PRIDE
Q8WXV5_HUMAN_1699 11 1699 1709 QVQVALETAQR PRIDE
Q8WXV5_HUMAN_1836 10 1836 1845 QLAEGTAQQR PRIDE
Q8WXV5_HUMAN_1867 9 1867 1875 QLLEEELAR PRIDE
Q8WXV5_HUMAN_2 8 2 9 VAGMLMPR PRIDE
Q8WXV5_HUMAN_2046 10 2046 2055 QKGLVEDTLR PRIDE
Q8WXV5_HUMAN_2296 21 2296 2316 QKQAADAEMEKHKKFAEQTLR PRIDE
Q8WXV5_HUMAN_2432 11 2432 2442 QLAEEDLAQQR PRIDE
Q8WXV5_HUMAN_2453 9 2453 2461 MQAVQEATR PRIDE
Q8WXV5_HUMAN_2482 22 2482 2503 RLQEDKEQMAQQLAEETQGFQR PRIDE
Q8WXV5_HUMAN_2483 21 2483 2503 LQEDKEQMAQQLAEETQGFQR PRIDE
Q8WXV5_HUMAN_2488 16 2488 2503 EQMAQQLAEETQGFQR PRIDE
Q8WXV5_HUMAN_2512 10 2512 2521 QLEMSAEAER PRIDE
Q8WXV5_HUMAN_2674 9 2674 2682 QQQQMEQER PRIDE
Q8WXV5_HUMAN_2685 9 2685 2693 LVASMEEAR PRIDE
Q8WXV5_HUMAN_2696 9 2696 2704 QHEAEEGVR PRIDE
Q8WXV5_HUMAN_2707 11 2707 2717 QEELQQLEQQR PRIDE
Q8WXV5_HUMAN_2719 12 2719 2730 QQEELLAEENQR PRIDE
Q8WXV5_HUMAN_2772 16 2772 2787 GPAAEAEPEHSFDGLR PRIDE
Q8WXV5_HUMAN_2970 9 2970 2978 GYFDEEMNR PRIDE
Q8WXV5_HUMAN_3184 29 3184 3212 DLLPSDMAVALLEAQAGTGHIIDPATSAR PRIDE
Q8WXV5_HUMAN_3336 20 3336 3355 CRPDQLTGLSLLPLSEKAAR PRIDE
Q8WXV5_HUMAN_337 10 337 346 HKPLLIDMNK PRIDE
Q8WXV5_HUMAN_3652 10 3652 3661 PNTHENLTYR PRIDE
Q8WXV5_HUMAN_3739 11 3739 3749 AQLMADFQAGR PRIDE
Q8WXV5_HUMAN_3771 11 3771 3781 QQGLASYDYVR PRIDE
Q8WXV5_HUMAN_3839 20 3839 3858 QTLSIYQALKKGLLSAEVAR PRIDE
Q8WXV5_HUMAN_387 15 387 401 SIITYVSSLYDAMPR PRIDE
Q8WXV5_HUMAN_3904 21 3904 3924 AVTGYRDPYTEKTISLFQAMK PRIDE
Q8WXV5_HUMAN_3910 15 3910 3924 DPYTEKTISLFQAMK PRIDE
Q8WXV5_HUMAN_4027 10 4027 4036 KQITMEELVR PRIDE
Q8WXV5_HUMAN_4130 9 4130 4138 MGIVGPEFK PRIDE
Q8WXV5_HUMAN_4159 9 4159 4167 LISLFQAMK PRIDE
Q8WXV5_HUMAN_4207 19 4207 4225 GLFDEEMNEILTDPSDDTK PRIDE
Q8WXV5_HUMAN_4226 19 4226 4244 GFFDPNTEENLTYLQLMER PRIDE
Q8WXV5_HUMAN_4361 21 4361 4381 AGTLSITEFADMLSGNAGGFR PRIDE
Q8WXV5_HUMAN_4384 18 4384 4401 SSSVGSSSSYPISPAVSR PRIDE
Q8WXV5_HUMAN_4429 9 4429 4437 VSITEAMHR PRIDE
Q8WXV5_HUMAN_4610 18 4610 4627 GYYSPYSVSGSGSTAGSR PRIDE
Q8WXV5_HUMAN_601 9 601 609 HPQGEQMYR PRIDE
Q96IE3_HUMAN_0 0 0 0 AALAHSEEVTASQVAATK PRIDE
Q96IE3_HUMAN_0 0 0 0 AGVVGPELHEQLLSAEK PRIDE
Q96IE3_HUMAN_0 0 0 0 APVPASELLASGVLSR PRIDE
Q96IE3_HUMAN_0 0 0 0 DGHNLISLLEVLSGDSLPR PRIDE
Q96IE3_HUMAN_0 0 0 0 DLDKADSMIR PRIDE
Q96IE3_HUMAN_0 0 0 0 ELIPTEEALR PRIDE
Q96IE3_HUMAN_0 0 0 0 ESADPLGAWLQDAR PRIDE
Q96IE3_HUMAN_0 0 0 0 GFFDPNTHENLTYLQLLER PRIDE
Q96IE3_HUMAN_0 0 0 0 GGAEGELQALR PRIDE
Q96IE3_HUMAN_0 0 0 0 IIITVVEEQEQK PRIDE
Q96IE3_HUMAN_0 0 0 0 IISLETYNLLR PRIDE
Q96IE3_HUMAN_0 0 0 0 LGFHLPLEVAYQR PRIDE
Q96IE3_HUMAN_0 0 0 0 LLDAQLATGGIVDPR PRIDE
Q96IE3_HUMAN_0 0 0 0 LLFNDVQTLK PRIDE
Q96IE3_HUMAN_0 0 0 0 LQEAGILSAEELQR PRIDE
Q96IE3_HUMAN_0 0 0 0 LQNVQIALDYLR PRIDE
Q96IE3_HUMAN_0 0 0 0 LTAEDLFEAR PRIDE
Q96IE3_HUMAN_0 0 0 0 MVEGYQGLR PRIDE
Q96IE3_HUMAN_0 0 0 0 SELELTLGKLEQVR PRIDE
Q96IE3_HUMAN_0 0 0 0 SHRVPLDVACAR PRIDE
Q96IE3_HUMAN_0 0 0 0 SIQEELQQLR PRIDE
Q96IE3_HUMAN_0 0 0 0 SLVPAAELLESR PRIDE
Q96IE3_HUMAN_0 0 0 0 VDGAEWGVDLPSVEAQLGSHR PRIDE
Q96IE3_HUMAN_0 0 0 0 WQAVLAQTDVR PRIDE
Q96IE3_HUMAN_1061 15 1061 1075 QALHSLELHYQAFLR PRIDE
Q96IE3_HUMAN_1202 14 1202 1215 SELELTLGKLEQVR PRIDE
Q96IE3_HUMAN_1366 17 1366 1382 RQEQIQAMPLADSQAVR PRIDE
Q96IE3_HUMAN_1367 16 1367 1382 QEQIQAMPLADSQAVR PRIDE
Q96IE3_HUMAN_1387 11 1387 1397 QEQALLEEIER PRIDE
Q96IE3_HUMAN_1428 11 1428 1438 AQLEPVASPAK PRIDE
Q96IE3_HUMAN_1511 15 1511 1525 QLAEAHAQAKAQAER PRIDE
Q96IE3_HUMAN_1628 8 1628 1635 QAQEEAER PRIDE
Q96IE3_HUMAN_1699 11 1699 1709 QVQVALETAQR PRIDE
Q96IE3_HUMAN_1836 10 1836 1845 QLAEGTAQQR PRIDE
Q96IE3_HUMAN_1867 9 1867 1875 QLLEEELAR PRIDE
Q96IE3_HUMAN_2 8 2 9 VAGMLMPR PRIDE
Q96IE3_HUMAN_2046 10 2046 2055 QKGLVEDTLR PRIDE
Q96IE3_HUMAN_2296 21 2296 2316 QKQAADAEMEKHKKFAEQTLR PRIDE
Q96IE3_HUMAN_2432 11 2432 2442 QLAEEDLAQQR PRIDE
Q96IE3_HUMAN_2453 9 2453 2461 MQAVQEATR PRIDE
Q96IE3_HUMAN_2482 22 2482 2503 RLQEDKEQMAQQLAEETQGFQR PRIDE
Q96IE3_HUMAN_2483 21 2483 2503 LQEDKEQMAQQLAEETQGFQR PRIDE
Q96IE3_HUMAN_2488 16 2488 2503 EQMAQQLAEETQGFQR PRIDE
Q96IE3_HUMAN_2512 10 2512 2521 QLEMSAEAER PRIDE
Q96IE3_HUMAN_2674 9 2674 2682 QQQQMEQER PRIDE
Q96IE3_HUMAN_2685 9 2685 2693 LVASMEEAR PRIDE
Q96IE3_HUMAN_2696 9 2696 2704 QHEAEEGVR PRIDE
Q96IE3_HUMAN_2707 11 2707 2717 QEELQQLEQQR PRIDE
Q96IE3_HUMAN_2719 12 2719 2730 QQEELLAEENQR PRIDE
Q96IE3_HUMAN_2772 16 2772 2787 GPAAEAEPEHSFDGLR PRIDE
Q96IE3_HUMAN_2970 9 2970 2978 GYFDEEMNR PRIDE
Q96IE3_HUMAN_3184 29 3184 3212 DLLPSDMAVALLEAQAGTGHIIDPATSAR PRIDE
Q96IE3_HUMAN_3336 20 3336 3355 CRPDQLTGLSLLPLSEKAAR PRIDE
Q96IE3_HUMAN_337 10 337 346 HKPLLIDMNK PRIDE
Q96IE3_HUMAN_3652 10 3652 3661 PNTHENLTYR PRIDE
Q96IE3_HUMAN_3739 11 3739 3749 AQLMADFQAGR PRIDE
Q96IE3_HUMAN_3771 11 3771 3781 QQGLASYDYVR PRIDE
Q96IE3_HUMAN_3839 20 3839 3858 QTLSIYQALKKGLLSAEVAR PRIDE
Q96IE3_HUMAN_387 15 387 401 SIITYVSSLYDAMPR PRIDE
Q96IE3_HUMAN_3904 21 3904 3924 AVTGYRDPYTEKTISLFQAMK PRIDE
Q96IE3_HUMAN_3910 15 3910 3924 DPYTEKTISLFQAMK PRIDE
Q96IE3_HUMAN_4027 10 4027 4036 KQITMEELVR PRIDE
Q96IE3_HUMAN_4130 9 4130 4138 MGIVGPEFK PRIDE
Q96IE3_HUMAN_4159 9 4159 4167 LISLFQAMK PRIDE
Q96IE3_HUMAN_4207 19 4207 4225 GLFDEEMNEILTDPSDDTK PRIDE
Q96IE3_HUMAN_4226 19 4226 4244 GFFDPNTEENLTYLQLMER PRIDE
Q96IE3_HUMAN_4361 21 4361 4381 AGTLSITEFADMLSGNAGGFR PRIDE
Q96IE3_HUMAN_4384 18 4384 4401 SSSVGSSSSYPISPAVSR PRIDE
Q96IE3_HUMAN_4429 9 4429 4437 VSITEAMHR PRIDE
Q96IE3_HUMAN_4610 18 4610 4627 GYYSPYSVSGSGSTAGSR PRIDE
Q96IE3_HUMAN_601 9 601 609 HPQGEQMYR 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


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