AutismKB 2.0

Annotation Detail for MC1R


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Basic Information Top
Gene Symbol:MC1R ( CMM5,MGC14337,MSH-R,SHEP2 )
Gene Full Name: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Band: 16q24.3
Quick LinksEntrez ID:4157; OMIM: 155555; Uniprot ID:MSHR_HUMAN; ENSEMBL ID: ENSG00000258947; HGNC ID: 6929
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 body0 / 707610 
blastocyst1 / 6231916
fetus4 / 5640127
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult18 / 19391219
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor8 / 26384530
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal37 / 336030711
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor24 / 124949192
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
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 
bone1 / 7165513
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye7 / 21105433
heart1 / 8962611
intestine5 / 23447221
kidney3 / 21177714
larynx0 / 241450 
liver4 / 20774319
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin27 / 210574128
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular4 / 5178077
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P66095
  • 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
Amygdala1.9 ± 1.08
Basal Forebrain1.36 ± 0.19
Basal Part of Pons1.01 ± 0.4
Cerebellar Cortex1.79 ± 0.67
Cerebellar Nuclei1.7 ± 0.85
Claustrum2.13 ± 0.76
Epithalamus1.1 ± 0.76
Frontal Lobe1.37 ± 0.74
Globus Pallidus1.96 ± 0.85
Hypothalamus1.64 ± 0.82
Insula1.52 ± 0.59
Limbic Lobe1.41 ± 0.7
Mesencephalon1.57 ± 0.78
Myelencephalon1.47 ± 0.66
Occipital Lobe1.32 ± 0.65
Parietal Lobe1.37 ± 0.71
Pontine Tegmentum1.53 ± 0.67
Striatum1.3 ± 0.59
Subthalamus1.52 ± 0.6
Temporal Lobe1.29 ± 0.61
Thalamus1.42 ± 0.62
White Matter1.61 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mc1rCBCerebellum33.86
50.15
Mc1rCTXCerebral cortex4.54
2.96
Mc1rHIPHippocampal region7.08
7.34
Mc1rHPFHippocampal formation7.7
7.12
Mc1rHYHypothalamus1.97
1.78
Mc1rLSXLateral septal complex0
0
Mc1rMBMidbrain3.28
4.58
Mc1rMYMedulla6.27
6.92
Mc1rOLFOlfactory bulb16.1
12.74
Mc1rPPons4.72
6.31
Mc1rPALPallidum1.94
1.71
Mc1rRHPRetrohippocampal region8.36
6.5
Mc1rsAMYStriatum-like amygdalar nuclei4.79
3.15
Mc1rSTRStriatum2.97
2.26
Mc1rSTRdStriatum dorsal region2.44
1.92
Mc1rSTRvStriatum ventral region4.49
3.27
Mc1rTHThalamus2.58
2.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000436 15 410 424 AILVDLEPGTMDSVR Peptide Atlas
TBB3_HUMAN_0 0 0 0 MREIVHIQAGQCGNQIGAK PRIDE
TBB3_HUMAN_103 18 103 120 GHYTEGAELVDSVLDVVR PRIDE
TBB3_HUMAN_103 19 103 121 GHYTEGAELVDSVLDVVRK PRIDE
TBB3_HUMAN_154 20 154 173 VREEYPDRIMNTFSVVPSPK PRIDE
TBB3_HUMAN_162 12 162 173 IMNTFSVVPSPK PRIDE
TBB3_HUMAN_2 17 2 18 EIVHIQAGQCGNQIGAK PRIDE
TBB3_HUMAN_216 25 216 240 LATPTYGDLNHLVSATMSGVTTSLR PRIDE
TBB3_HUMAN_216 35 216 250 LATPTYGDLNHLVSATMSGVTTSLRFPGQLNADLR PRIDE
TBB3_HUMAN_217 25 217 241 LATPTYGDLNHLVSATMSGVTTSLR PRIDE
TBB3_HUMAN_241 10 241 250 FPGQLNADLR PRIDE
TBB3_HUMAN_241 11 241 251 FPGQLNADLRK PRIDE
TBB3_HUMAN_242 10 242 251 FPGQLNADLR PRIDE
TBB3_HUMAN_251 11 251 261 KLAVNMVPFPR PRIDE
TBB3_HUMAN_252 10 252 261 LAVNMVPFPR PRIDE
TBB3_HUMAN_252 11 252 262 KLAVNMVPFPR PRIDE
TBB3_HUMAN_262 14 262 275 LHFFMPGFAPLTAR PRIDE
TBB3_HUMAN_263 14 263 276 LHFFMPGFAPLTAR PRIDE
TBB3_HUMAN_282 15 282 296 ALTVPELTQQMFDAK PRIDE
TBB3_HUMAN_297 9 297 305 NMMAACDPR PRIDE
TBB3_HUMAN_309 9 309 317 YLTVATVFR PRIDE
TBB3_HUMAN_324 12 324 335 EVDEQMLAIQSK PRIDE
TBB3_HUMAN_325 12 325 336 EVDEQMLAIQSK PRIDE
TBB3_HUMAN_336 14 336 349 NSSYFVEWIPNNVK PRIDE
TBB3_HUMAN_379 11 379 389 RISEQFTAMFR PRIDE
TBB3_HUMAN_380 10 380 389 ISEQFTAMFR PRIDE
TBB3_HUMAN_46 12 46 57 ISVYYNEASSHK PRIDE
TBB3_HUMAN_46 16 46 61 ISVYYNEASSHKYVPR PRIDE
TBB3_HUMAN_62 15 62 76 AILVDLEPGTMDSVR PRIDE
TBB3_HUMAN_77 26 77 102 SGAFGHLFRPDNFIFGQSGAGNNWAK PRIDE
TBB3_HUMAN_78 9 78 86 SGAFGHLFR 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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