AutismKB 2.0

Annotation Detail for MCPH1


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Basic Information Top
Gene Symbol:MCPH1 ( BRIT1,FLJ12847,MCT )
Gene Full Name: microcephalin 1
Band: 8p23.1
Quick LinksEntrez ID:79648; OMIM: 607117; Uniprot ID:MCPH1_HUMAN; ENSEMBL ID: ENSG00000147316; HGNC ID: 6954
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 body2 / 7076128
blastocyst1 / 6231916
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult28 / 193912114
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal76 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal6 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal0 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine3 / 23447212
kidney6 / 21177728
larynx0 / 241450 
liver4 / 20774319
lung9 / 33697426
lymph0 / 442700 
lymph node6 / 9161065
mammary gland1 / 1532716
mouth3 / 6705244
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta6 / 28082521
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach0 / 966190 
testis18 / 33044254
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus6 / 23287825
vascular2 / 5178038
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219592_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.25
Adipocyte4.45
AdrenalCortex4.8
Adrenalgland3.9
Amygdala4.65
Appendix4.55
AtrioventricularNode3.45
BDCA4+_DentriticCells4.85
Bonemarrow4.5
BronchialEpithelialCells4.4
CD105+_Endothelial4.55
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.65
CD34+5.6
CD4+_Tcells4.9
CD56+_NKCells5.4
CD71+_EarlyErythroid4.2
CD8+_Tcells4.35
CardiacMyocytes6.05
Caudatenucleus4.05
Cerebellum3.65
CerebellumPeduncles5.2
CiliaryGanglion3.2
CingulateCortex4.65
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.5
FetalThyroid4.4
Fetalbrain4.5
Fetalliver4
Fetallung3.7
GlobusPallidus3.35
Heart5.95
Hypothalamus4.85
Kidney3.7
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.65
Liver6.35
Lung4.9
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.75
Lymphoma_burkitts(Raji)6.45
MedullaOblongata4.1
OccipitalLobe4.05
OlfactoryBulb3.55
Ovary3
Pancreas3.7
PancreaticIslet4.85
ParietalLobe4.85
Pituitary5.3
Placenta4.7
Pons4.3
PrefrontalCortex5.55
Prostate5.25
Salivarygland3.65
SkeletalMuscle5.55
Skin3.5
SmoothMuscle5.1
Spinalcord4.8
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.2
TemporalLobe4.1
Testis3.9
TestisGermCell3.75
TestisIntersitial3.8
TestisLeydigCell4.5
TestisSeminiferousTubule3.85
Thalamus4.6
Thymus6.4
Thyroid5.6
Tongue4.55
Tonsil4.35
Trachea3.75
TrigeminalGanglion4.55
Uterus3.7
UterusCorpus4.1
WholeBlood4.9
Wholebrain3.85
colon4.5
pineal_day5.54
pineal_night5.46
retina5.4
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_452_PI416408490
  • 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
Amygdala4.73 ± 0.49
Basal Forebrain4.19 ± 0.19
Basal Part of Pons4.39 ± 0.41
Cerebellar Cortex4.63 ± 0.32
Cerebellar Nuclei4.33 ± 0.39
Claustrum4.45 ± 0.58
Epithalamus4.31 ± 0.29
Frontal Lobe4.19 ± 0.44
Globus Pallidus4.5 ± 0.6
Hypothalamus4.22 ± 0.24
Insula4.37 ± 0.27
Limbic Lobe4.43 ± 0.39
Mesencephalon4.35 ± 0.48
Myelencephalon4.37 ± 0.47
Occipital Lobe4.64 ± 0.39
Parietal Lobe4.37 ± 0.39
Pontine Tegmentum4.29 ± 0.5
Striatum4.44 ± 0.46
Subthalamus4.43 ± 0.08
Temporal Lobe4.38 ± 0.44
Thalamus4.28 ± 0.53
White Matter5.14 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mcph1CBCerebellum59.65
77.37
Mcph1CTXCerebral cortex100
81.46
Mcph1HIPHippocampal region67.22
99.62
Mcph1HPFHippocampal formation70.1
82.72
Mcph1HYHypothalamus75.42
56.86
Mcph1LSXLateral septal complex59.96
40.55
Mcph1MBMidbrain64.9
55.09
Mcph1MYMedulla70.63
69.64
Mcph1OLFOlfactory bulb100
96.98
Mcph1PPons62.53
62.22
Mcph1PALPallidum69.41
58.15
Mcph1RHPRetrohippocampal region78.81
58.74
Mcph1sAMYStriatum-like amygdalar nuclei78.96
56.94
Mcph1STRStriatum71.73
49.67
Mcph1STRdStriatum dorsal region62.66
42.73
Mcph1STRvStriatum ventral region100
70.49
Mcph1THThalamus65.26
50.5
Peptide Top

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