AutismKB 2.0

Annotation Detail for MACC1


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Basic Information Top
Gene Symbol:MACC1 ( 7A5,SH3BP4L )
Gene Full Name: metastasis associated in colon cancer 1
Band: 7p21.1
Quick LinksEntrez ID:346389; OMIM: 612646; Uniprot ID:MACC1_HUMAN; ENSEMBL ID: ENSG00000183742; HGNC ID: 30215
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 body1 / 7076114
blastocyst1 / 6231916
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult59 / 193912130
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor31 / 114246271
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal39 / 336030711
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
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 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow2 / 4880140
brain1 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye1 / 2110544
heart2 / 8962622
intestine35 / 234472149
kidney10 / 21177747
larynx0 / 241450 
liver3 / 20774314
lung8 / 33697423
lymph0 / 442700 
lymph node1 / 9161010
mammary gland6 / 15327139
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach6 / 9661962
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P144599
  • 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
Amygdala3.51 ± 1.28
Basal Forebrain2.66 ± 0.6
Basal Part of Pons2.98 ± 0.95
Cerebellar Cortex2.67 ± 0.84
Cerebellar Nuclei3.22 ± 0.91
Claustrum3.95 ± 0.73
Epithalamus2.26 ± 0.94
Frontal Lobe2.87 ± 0.83
Globus Pallidus3.34 ± 0.7
Hypothalamus3.12 ± 0.94
Insula3.19 ± 0.61
Limbic Lobe2.87 ± 0.81
Mesencephalon3.16 ± 0.89
Myelencephalon2.99 ± 0.94
Occipital Lobe2.9 ± 0.82
Parietal Lobe3.02 ± 1.04
Pontine Tegmentum2.85 ± 0.88
Striatum2.99 ± 0.89
Subthalamus3.45 ± 1.08
Temporal Lobe2.86 ± 0.9
Thalamus2.96 ± 0.8
White Matter3.17 ± 0.68
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4732474O15RikCBCerebellum47.3
66.37
4732474O15RikCTXCerebral cortex100
100
4732474O15RikHIPHippocampal region88.92
100
4732474O15RikHPFHippocampal formation100
100
4732474O15RikHYHypothalamus100
89.63
4732474O15RikLSXLateral septal complex100
90.23
4732474O15RikMBMidbrain89.83
88.02
4732474O15RikMYMedulla76.9
87.76
4732474O15RikOLFOlfactory bulb100
100
4732474O15RikPPons79.9
87.99
4732474O15RikPALPallidum100
98.48
4732474O15RikRHPRetrohippocampal region100
100
4732474O15RiksAMYStriatum-like amygdalar nuclei100
100
4732474O15RikSTRStriatum100
100
4732474O15RikSTRdStriatum dorsal region100
100
4732474O15RikSTRvStriatum ventral region100
100
4732474O15RikTHThalamus100
100
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