MAP1B (microtubule associated protein 1B) - Rat Genome Database
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Gene: MAP1B (microtubule associated protein 1B) Homo sapiens
Analyze
Symbol: MAP1B
Name: microtubule associated protein 1B
RGD ID: 733041
HGNC Page HGNC
Description: Predicted to have actin binding activity and microtubule binding activity. Involved in cellular process. Localizes to cytosol and plasma membrane. Implicated in periventricular nodular heterotopia.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp686E1099; DKFZp686F1345; FLJ38954; FUTSCH; MAP-1B; MAP5; microtubule-associated protein 1B; PPP1R102; PVNH9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl572,107,234 - 72,209,565 (+)EnsemblGRCh38hg38GRCh38
GRCh38572,107,475 - 72,209,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37571,403,302 - 71,505,392 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37571,403,118 - 71,505,397 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36571,438,874 - 71,541,153 (+)NCBINCBI36hg18NCBI36
Build 34571,515,074 - 71,538,609NCBI
Celera567,298,553 - 67,400,783 (+)NCBI
Cytogenetic Map5q13.2NCBI
HuRef566,608,550 - 66,710,969 (+)NCBIHuRef
CHM1_1570,835,782 - 70,938,065 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,5-hexanedione  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (ISO)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
chlordecone  (ISO)
clobetasol  (ISO)
cobalt dichloride  (EXP)
cocaine  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
daunorubicin  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diiodine  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fipronil  (ISO)
fluoxetine  (ISO)
folic acid  (EXP,ISO)
geldanamycin  (EXP)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (ISO)
hydroquinone  (EXP)
ketamine  (ISO)
leflunomide  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
miconazole  (ISO)
mifepristone  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
paracetamol  (EXP)
PCB138  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (EXP)
potassium chromate  (EXP)
progesterone  (ISO)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thioacetamide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
xylitol  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical dendrite  (ISO,ISS)
axon  (ISO,ISS)
basal dendrite  (ISO,ISS)
cytoskeleton  (ISO)
cytosol  (IBA,IDA,ISO)
dendrite  (IBA,ISO,ISS)
dendritic spine  (IEA)
growth cone  (IEA,ISO)
hippocampal mossy fiber  (ISO,ISS)
microtubule  (IBA,IEA,ISO,ISS)
microtubule associated complex  (IBA,ISO)
neuronal cell body  (IBA,ISO,ISS)
perikaryon  (IEA,ISO)
perinuclear region of cytoplasm  (IEA,ISO)
photoreceptor outer segment  (IEA,ISO)
plasma membrane  (IDA,ISO)
postsynaptic density  (IEA,ISO)
somatodendritic compartment  (ISO,ISS)
synapse  (IBA)
varicosity  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1712602   PMID:1881920   PMID:2470876   PMID:7519512   PMID:7806212   PMID:7908020   PMID:9533556   PMID:9570753   PMID:9813091   PMID:9892354   PMID:10764738   PMID:10899930  
PMID:11002287   PMID:11102469   PMID:11698390   PMID:11733546   PMID:12147674   PMID:12477932   PMID:12684070   PMID:12689591   PMID:12807913   PMID:14702039   PMID:14760703   PMID:15032605  
PMID:15205320   PMID:15345747   PMID:15381419   PMID:15525354   PMID:15762842   PMID:16014633   PMID:16212419   PMID:16344560   PMID:16478718   PMID:16996626   PMID:17081983   PMID:17361185  
PMID:17620599   PMID:18063656   PMID:18079022   PMID:18195017   PMID:18656471   PMID:18839057   PMID:19054571   PMID:19389623   PMID:19567321   PMID:19615732   PMID:20195357   PMID:20562859  
PMID:20719958   PMID:21081666   PMID:21145461   PMID:21151955   PMID:21159966   PMID:21280222   PMID:21508097   PMID:21565611   PMID:21645326   PMID:21873635   PMID:22308378   PMID:22586326  
PMID:22779921   PMID:23084401   PMID:23184937   PMID:23333304   PMID:23398456   PMID:23402259   PMID:23455922   PMID:24089205   PMID:24366813   PMID:24457600   PMID:24566975   PMID:24614691  
PMID:24711643   PMID:24754922   PMID:24923560   PMID:25281560   PMID:25429138   PMID:25437307   PMID:25483588   PMID:25515538   PMID:25609649   PMID:25659154   PMID:25665578   PMID:25798074  
PMID:25865307   PMID:25900982   PMID:25902260   PMID:25921289   PMID:25944111   PMID:26186194   PMID:26217791   PMID:26233433   PMID:26609151   PMID:26618866   PMID:26949251   PMID:27025967  
PMID:27248496   PMID:27375898   PMID:27542412   PMID:27545878   PMID:27591049   PMID:28330616   PMID:28514442   PMID:28561026   PMID:28581483   PMID:28611215   PMID:28685749   PMID:28864773  
PMID:29136244   PMID:29229926   PMID:29416926   PMID:29432744   PMID:29467282   PMID:29491746   PMID:29507755   PMID:29738522   PMID:29872149   PMID:29911972   PMID:29925525   PMID:29955894  
PMID:30021884   PMID:30209976   PMID:30320910   PMID:30425250   PMID:30425305   PMID:30462309   PMID:30652415   PMID:30669930   PMID:30833792   PMID:30979931   PMID:31006538   PMID:31059266  
PMID:31067453   PMID:31091453   PMID:31235589   PMID:31452512   PMID:31492158   PMID:31540324   PMID:31980649  


Genomics

Comparative Map Data
MAP1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl572,107,234 - 72,209,565 (+)EnsemblGRCh38hg38GRCh38
GRCh38572,107,475 - 72,209,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37571,403,302 - 71,505,392 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37571,403,118 - 71,505,397 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36571,438,874 - 71,541,153 (+)NCBINCBI36hg18NCBI36
Build 34571,515,074 - 71,538,609NCBI
Celera567,298,553 - 67,400,783 (+)NCBI
Cytogenetic Map5q13.2NCBI
HuRef566,608,550 - 66,710,969 (+)NCBIHuRef
CHM1_1570,835,782 - 70,938,065 (+)NCBICHM1_1
Map1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391399,557,972 - 99,653,110 (-)NCBIGRCm39mm39
GRCm381399,421,464 - 99,516,602 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1399,421,446 - 99,516,540 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713100,191,419 - 100,286,557 (-)NCBIGRCm37mm9NCBIm37
MGSCv3613100,524,598 - 100,616,697 (-)NCBImm8
Celera13103,077,104 - 103,171,785 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1352.9NCBI
Map1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2230,817,261 - 30,910,458 (-)NCBI
Rnor_6.0 Ensembl229,675,391 - 29,768,750 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0229,675,391 - 29,768,750 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0248,837,124 - 48,930,483 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4230,415,235 - 30,508,354 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1230,339,919 - 30,360,389 (-)NCBI
Celera226,841,920 - 26,934,955 (-)NCBICelera
Cytogenetic Map2q12NCBI
Map1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955575913,723 - 1,021,028 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955575914,607 - 1,020,971 (+)NCBIChiLan1.0ChiLan1.0
MAP1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1543,701,530 - 43,803,393 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl543,701,530 - 43,803,393 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0543,102,739 - 43,204,978 (-)NCBIMhudiblu_PPA_v0panPan3
MAP1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl255,174,837 - 55,253,975 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1255,175,000 - 55,258,160 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Map1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365494,266,371 - 4,371,579 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAP1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1648,403,526 - 48,498,896 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11648,403,338 - 48,501,453 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21652,391,814 - 52,489,652 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MAP1B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1466,445,687 - 66,548,595 (+)NCBI
ChlSab1.1 Ensembl466,445,901 - 66,549,142 (+)Ensembl
Map1b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249051,198,157 - 1,304,128 (+)NCBI

Position Markers
D5S1639E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,505,048 - 71,505,160UniSTSGRCh37
Build 36571,540,804 - 71,540,916RGDNCBI36
Celera567,400,434 - 67,400,546RGD
Cytogenetic Map5q13UniSTS
HuRef566,710,620 - 66,710,732UniSTS
GeneMap99-GB4 RH Map5350.44UniSTS
G10477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,401,883 - 71,402,072UniSTSGRCh37
Build 36571,437,639 - 71,437,828RGDNCBI36
Celera567,297,323 - 67,297,508RGD
Cytogenetic Map5q13UniSTS
HuRef566,607,320 - 66,607,505UniSTS
RH119882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,437,457 - 71,437,773UniSTSGRCh37
Build 36571,473,213 - 71,473,529RGDNCBI36
Celera567,332,894 - 67,333,210RGD
Cytogenetic Map5q13UniSTS
HuRef566,642,891 - 66,643,207UniSTS
TNG Radiation Hybrid Map532875.0UniSTS
D5S451E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,462,864 - 71,462,926UniSTSGRCh37
Build 36571,498,620 - 71,498,682RGDNCBI36
Celera567,358,295 - 67,358,357RGD
Cytogenetic Map5q13UniSTS
HuRef566,668,284 - 66,668,346UniSTS
GDB:194651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,474,517 - 71,474,651UniSTSGRCh37
Build 36571,510,273 - 71,510,407RGDNCBI36
Celera567,369,929 - 67,370,063RGD
Cytogenetic Map5q13UniSTS
HuRef566,680,111 - 66,680,247UniSTS
X51396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,501,874 - 71,501,984UniSTSGRCh37
Build 36571,537,630 - 71,537,740RGDNCBI36
Celera567,397,259 - 67,397,369RGD
HuRef566,707,445 - 66,707,555UniSTS
RH12515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,502,647 - 71,502,807UniSTSGRCh37
Build 36571,538,403 - 71,538,563RGDNCBI36
Celera567,398,032 - 67,398,192RGD
Cytogenetic Map5q13UniSTS
HuRef566,708,218 - 66,708,378UniSTS
GeneMap99-GB4 RH Map5347.08UniSTS
SHGC-153845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,412,177 - 71,412,474UniSTSGRCh37
Build 36571,447,933 - 71,448,230RGDNCBI36
Celera567,307,613 - 67,307,910RGD
Cytogenetic Map5q13UniSTS
HuRef566,617,610 - 66,617,907UniSTS
TNG Radiation Hybrid Map532865.0UniSTS
D5S522E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,494,962 - 71,495,051UniSTSGRCh37
Build 36571,530,718 - 71,530,807RGDNCBI36
Celera567,390,374 - 67,390,463RGD
Cytogenetic Map5q13UniSTS
HuRef566,700,561 - 66,700,650UniSTS
D5S572E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,505,103 - 71,505,192UniSTSGRCh37
Build 36571,540,859 - 71,540,948RGDNCBI36
Celera567,400,489 - 67,400,578RGD
Cytogenetic Map5q13UniSTS
HuRef566,710,675 - 66,710,764UniSTS
WI-19293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,491,144 - 71,491,345UniSTSGRCh37
Build 36571,526,900 - 71,527,101RGDNCBI36
Celera567,386,556 - 67,386,757RGD
Cytogenetic Map5q13UniSTS
HuRef566,696,743 - 66,696,944UniSTS
GeneMap99-GB4 RH Map5345.39UniSTS
Whitehead-RH Map5250.4UniSTS
AFMB332XE9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,474,416 - 71,474,622UniSTSGRCh37
Build 36571,510,172 - 71,510,378RGDNCBI36
Celera567,369,828 - 67,370,034RGD
Cytogenetic Map5q13UniSTS
HuRef566,680,010 - 66,680,218UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S2382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,491,430 - 71,491,519UniSTSGRCh37
Build 36571,527,186 - 71,527,275RGDNCBI36
Celera567,386,842 - 67,386,931RGD
Cytogenetic Map5q13UniSTS
HuRef566,697,029 - 66,697,118UniSTS
Whitehead-YAC Contig Map5 UniSTS
GeneMap99-G3 RH Map52581.0UniSTS
D5S1491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,401,864 - 71,402,075UniSTSGRCh37
Build 36571,437,620 - 71,437,831RGDNCBI36
Celera567,297,304 - 67,297,511RGD
Cytogenetic Map5q13UniSTS
HuRef566,607,301 - 66,607,508UniSTS
Marshfield Genetic Map575.89UniSTS
Whitehead-RH Map5253.2UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5313.3UniSTS
RH78085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,504,510 - 71,504,689UniSTSGRCh37
Build 36571,540,266 - 71,540,445RGDNCBI36
Celera567,399,896 - 67,400,075RGD
Cytogenetic Map5q13UniSTS
HuRef566,710,082 - 66,710,261UniSTS
GeneMap99-GB4 RH Map5353.7UniSTS
NCBI RH Map5313.3UniSTS
WI-16218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,494,419 - 71,494,545UniSTSGRCh37
Build 36571,530,175 - 71,530,301RGDNCBI36
Celera567,389,831 - 67,389,957RGD
Cytogenetic Map5q13UniSTS
HuRef566,700,018 - 66,700,144UniSTS
GeneMap99-GB4 RH Map5353.7UniSTS
Whitehead-RH Map5251.0UniSTS
NCBI RH Map5313.3UniSTS
FB10E8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37571,484,661 - 71,484,866UniSTSGRCh37
Build 36571,520,417 - 71,520,622RGDNCBI36
Celera567,380,074 - 67,380,279RGD
Cytogenetic Map5q13UniSTS
HuRef566,690,259 - 66,690,464UniSTS
GeneMap99-GB4 RH Map5350.54UniSTS
Whitehead-RH Map5250.6UniSTS
Whitehead-YAC Contig Map5 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3155
Count of miRNA genes:1253
Interacting mature miRNAs:1648
Transcripts:ENST00000296755, ENST00000504183, ENST00000504492, ENST00000511641, ENST00000512974, ENST00000513526
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 10
Medium 1711 1962 1105 105 222 33 3347 1205 3701 185 1156 1242 83 1199 1974 1
Low 654 301 553 455 792 367 1005 987 23 228 288 362 91 1 5 814 3 2
Below cutoff 53 718 65 64 856 64 3 2 4 12 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001324255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF085863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BN001084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BN001085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA429544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA580501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EB388369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY119868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L31916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296755   ⟹   ENSP00000296755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl572,107,475 - 72,209,565 (+)Ensembl
RefSeq Acc Id: ENST00000504183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl572,107,477 - 72,116,030 (+)Ensembl
RefSeq Acc Id: ENST00000504492   ⟹   ENSP00000423416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl572,179,628 - 72,195,440 (+)Ensembl
RefSeq Acc Id: ENST00000511641   ⟹   ENSP00000423444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl572,107,486 - 72,195,314 (+)Ensembl
RefSeq Acc Id: ENST00000512974   ⟹   ENSP00000426312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl572,107,234 - 72,183,823 (+)Ensembl
RefSeq Acc Id: ENST00000513526   ⟹   ENSP00000427194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl572,107,477 - 72,195,422 (+)Ensembl
RefSeq Acc Id: NM_001324255   ⟹   NP_001311184
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,179,787 - 72,209,565 (+)NCBI
CHM1_1570,908,151 - 70,938,065 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005909   ⟹   NP_005900
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,107,475 - 72,209,565 (+)NCBI
GRCh37571,403,118 - 71,505,397 (+)ENTREZGENE
Build 36571,438,874 - 71,541,153 (+)NCBI Archive
HuRef566,608,550 - 66,710,969 (+)ENTREZGENE
CHM1_1570,835,782 - 70,938,065 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005900   ⟸   NM_005909
- Peptide Label: isoform 1
- UniProtKB: P46821 (UniProtKB/Swiss-Prot),   Q6PJD3 (UniProtKB/TrEMBL),   Q86X89 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311184   ⟸   NM_001324255
- Peptide Label: isoform 2
- UniProtKB: A2BDK6 (UniProtKB/TrEMBL),   Q86X89 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000423416   ⟸   ENST00000504492
RefSeq Acc Id: ENSP00000296755   ⟸   ENST00000296755
RefSeq Acc Id: ENSP00000423444   ⟸   ENST00000511641
RefSeq Acc Id: ENSP00000426312   ⟸   ENST00000512974
RefSeq Acc Id: ENSP00000427194   ⟸   ENST00000513526

Promoters
RGD ID:6803342
Promoter ID:HG_KWN:50433
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_005909,   UC010IYW.1,   UC010IYX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36571,438,736 - 71,439,236 (+)MPROMDB
RGD ID:6812771
Promoter ID:HG_ACW:63881
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:MAP1B.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36571,529,661 - 71,530,161 (+)MPROMDB
RGD ID:6869842
Promoter ID:EPDNEW_H8086
Type:initiation region
Name:MAP1B_2
Description:microtubule associated protein 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8087  EPDNEW_H8088  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,107,336 - 72,107,396EPDNEW
RGD ID:6869844
Promoter ID:EPDNEW_H8087
Type:initiation region
Name:MAP1B_1
Description:microtubule associated protein 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8086  EPDNEW_H8088  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,107,477 - 72,107,537EPDNEW
RGD ID:6869846
Promoter ID:EPDNEW_H8088
Type:initiation region
Name:MAP1B_3
Description:microtubule associated protein 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8086  EPDNEW_H8087  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38572,179,685 - 72,179,745EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005909.3(MAP1B):c.274C>T (p.Pro92Ser) single nucleotide variant Malignant melanoma [RCV000066980] Chr5:72115787 [GRCh38]
Chr5:71411614 [GRCh37]
Chr5:71447370 [NCBI36]
Chr5:5q13.2
not provided
NM_005909.3(MAP1B):c.3938C>T (p.Pro1313Leu) single nucleotide variant Malignant melanoma [RCV000066981] Chr5:72197293 [GRCh38]
Chr5:71493120 [GRCh37]
Chr5:71528876 [NCBI36]
Chr5:5q13.2
not provided
NM_005909.3(MAP1B):c.5412C>T (p.Thr1804=) single nucleotide variant Malignant melanoma [RCV000066982] Chr5:72198767 [GRCh38]
Chr5:71494594 [GRCh37]
Chr5:71530350 [NCBI36]
Chr5:5q13.2
not provided
NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter) single nucleotide variant Periventricular nodular heterotopia 9 [RCV001195715]|Periventricular nodular heterotopia [RCV000662228] Chr5:72194949 [GRCh38]
Chr5:71490776 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) single nucleotide variant Periventricular nodular heterotopia 9 [RCV001195716]|Periventricular nodular heterotopia [RCV000662229] Chr5:72196671 [GRCh38]
Chr5:71492498 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|uncertain significance
NM_005909.3(MAP1B):c.287-26990C>T single nucleotide variant Lung cancer [RCV000096152] Chr5:72156753 [GRCh38]
Chr5:71452580 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5q13.2(chr5:71915937-72562961)x3 copy number gain See cases [RCV000141543] Chr5:71915937..72562961 [GRCh38]
Chr5:71211764..71858788 [GRCh37]
Chr5:71247520..71894544 [NCBI36]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_005909.5(MAP1B):c.819del (p.Leu274fs) deletion Periventricular nodular heterotopia [RCV000662230] Chr5:72194173 [GRCh38]
Chr5:71490000 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter) single nucleotide variant Periventricular nodular heterotopia 9 [RCV001195714]|Periventricular nodular heterotopia [RCV000662227]|not provided [RCV001200518] Chr5:72194262 [GRCh38]
Chr5:71490089 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q13.2(chr5:71450015-72008955)x1 copy number loss not provided [RCV000744846] Chr5:71450015..72008955 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.2883C>T (p.His961=) single nucleotide variant not provided [RCV000896967] Chr5:72196238 [GRCh38]
Chr5:71492065 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.2319C>T (p.Ala773=) single nucleotide variant not provided [RCV000960855] Chr5:72195674 [GRCh38]
Chr5:71491501 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.393T>C (p.Ala131=) single nucleotide variant not provided [RCV000928024] Chr5:72186637 [GRCh38]
Chr5:71482464 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.3297C>T (p.Thr1099=) single nucleotide variant not provided [RCV000900720] Chr5:72196652 [GRCh38]
Chr5:71492479 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.2387C>T (p.Ala796Val) single nucleotide variant not provided [RCV000970128] Chr5:72195742 [GRCh38]
Chr5:71491569 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.1779A>G (p.Pro593=) single nucleotide variant not provided [RCV000972419] Chr5:72195134 [GRCh38]
Chr5:71490961 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.2606A>G (p.Glu869Gly) single nucleotide variant not provided [RCV000972420] Chr5:72195961 [GRCh38]
Chr5:71491788 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.810C>A (p.Gly270=) single nucleotide variant not provided [RCV000928144] Chr5:72194165 [GRCh38]
Chr5:71489992 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.6993G>A (p.Ser2331=) single nucleotide variant not provided [RCV000927598] Chr5:72200348 [GRCh38]
Chr5:71496175 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.4902C>T (p.Pro1634=) single nucleotide variant not provided [RCV000881875] Chr5:72198257 [GRCh38]
Chr5:71494084 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.6240C>T (p.Val2080=) single nucleotide variant not provided [RCV000926613] Chr5:72199595 [GRCh38]
Chr5:71495422 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.2129A>G (p.Lys710Arg) single nucleotide variant not provided [RCV000884551] Chr5:72195484 [GRCh38]
Chr5:71491311 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.3887C>T (p.Pro1296Leu) single nucleotide variant not provided [RCV000884552] Chr5:72197242 [GRCh38]
Chr5:71493069 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.6546C>T (p.Asp2182=) single nucleotide variant not provided [RCV000884553] Chr5:72199901 [GRCh38]
Chr5:71495728 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.316G>A (p.Val106Ile) single nucleotide variant not provided [RCV000882645] Chr5:72183772 [GRCh38]
Chr5:71479599 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.5193C>A (p.Ser1731=) single nucleotide variant not provided [RCV000964259] Chr5:72198548 [GRCh38]
Chr5:71494375 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.4611C>T (p.Gly1537=) single nucleotide variant not provided [RCV000905855] Chr5:72197966 [GRCh38]
Chr5:71493793 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.6582G>A (p.Thr2194=) single nucleotide variant not provided [RCV000973240] Chr5:72199937 [GRCh38]
Chr5:71495764 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.6993G>T (p.Ser2331=) single nucleotide variant not provided [RCV000898576] Chr5:72200348 [GRCh38]
Chr5:71496175 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.3672T>C (p.Arg1224=) single nucleotide variant not provided [RCV000902170] Chr5:72197027 [GRCh38]
Chr5:71492854 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.5238A>G (p.Gln1746=) single nucleotide variant not provided [RCV000923703] Chr5:72198593 [GRCh38]
Chr5:71494420 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.2727T>C (p.Pro909=) single nucleotide variant not provided [RCV000969196] Chr5:72196082 [GRCh38]
Chr5:71491909 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.2628C>T (p.Tyr876=) single nucleotide variant not provided [RCV000879681] Chr5:72195983 [GRCh38]
Chr5:71491810 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.777G>A (p.Lys259=) single nucleotide variant not provided [RCV000940249] Chr5:72194132 [GRCh38]
Chr5:71489959 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.621A>G (p.Gln207=) single nucleotide variant not provided [RCV000886791] Chr5:72193976 [GRCh38]
Chr5:71489803 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.1495C>T (p.Leu499=) single nucleotide variant not provided [RCV000924112] Chr5:72194850 [GRCh38]
Chr5:71490677 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.5818T>G (p.Tyr1940Asp) single nucleotide variant not provided [RCV000916142] Chr5:72199173 [GRCh38]
Chr5:71495000 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.3324C>T (p.Asp1108=) single nucleotide variant not provided [RCV000896333] Chr5:72196679 [GRCh38]
Chr5:71492506 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.6633G>C (p.Ser2211=) single nucleotide variant not provided [RCV000980898] Chr5:72199988 [GRCh38]
Chr5:71495815 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.3810C>A (p.Thr1270=) single nucleotide variant not provided [RCV000968594] Chr5:72197165 [GRCh38]
Chr5:71492992 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.4149C>T (p.Pro1383=) single nucleotide variant not provided [RCV000919281] Chr5:72197504 [GRCh38]
Chr5:71493331 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.315C>T (p.Asp105=) single nucleotide variant not provided [RCV000923013] Chr5:72183771 [GRCh38]
Chr5:71479598 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.4626G>A (p.Thr1542=) single nucleotide variant not provided [RCV000950686] Chr5:72197981 [GRCh38]
Chr5:71493808 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.5512T>C (p.Phe1838Leu) single nucleotide variant not provided [RCV000974354] Chr5:72198867 [GRCh38]
Chr5:71494694 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.96C>T (p.Phe32=) single nucleotide variant not provided [RCV000914097] Chr5:72107627 [GRCh38]
Chr5:71403454 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter) single nucleotide variant Global developmental delay [RCV000791349] Chr5:72198723 [GRCh38]
Chr5:71494550 [GRCh37]
Chr5:5q13.2
pathogenic
NM_005909.5(MAP1B):c.6419G>T (p.Arg2140Leu) single nucleotide variant not provided [RCV000998395] Chr5:72199774 [GRCh38]
Chr5:71495601 [GRCh37]
Chr5:5q13.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_005909.5(MAP1B):c.6162A>C (p.Ala2054=) single nucleotide variant not provided [RCV000962125] Chr5:72199517 [GRCh38]
Chr5:71495344 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter) single nucleotide variant Autism spectrum disorder [RCV000984867]|Periventricular nodular heterotopia 9 [RCV001195717] Chr5:72196449 [GRCh38]
Chr5:71492276 [GRCh37]
Chr5:5q13.2
pathogenic|risk factor
GRCh37/hg19 5q13.2(chr5:70986021-71494025)x3 copy number gain not provided [RCV000849620] Chr5:70986021..71494025 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2
likely pathogenic
NM_005909.5(MAP1B):c.2134del (p.Glu712fs) deletion Periventricular nodular heterotopia 9 [RCV001195718]|Periventricular nodular heterotopia [RCV000984866] Chr5:72195488 [GRCh38]
Chr5:71491315 [GRCh37]
Chr5:5q13.2
pathogenic|risk factor
NM_005909.5(MAP1B):c.2484C>T (p.Ser828=) single nucleotide variant not provided [RCV000902574] Chr5:72195839 [GRCh38]
Chr5:71491666 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.5997C>T (p.His1999=) single nucleotide variant not provided [RCV000974013] Chr5:72199352 [GRCh38]
Chr5:71495179 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.2884G>A (p.Val962Ile) single nucleotide variant not provided [RCV000923469] Chr5:72196239 [GRCh38]
Chr5:71492066 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.5026G>A (p.Val1676Met) single nucleotide variant not provided [RCV000881876] Chr5:72198381 [GRCh38]
Chr5:71494208 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.2787A>G (p.Glu929=) single nucleotide variant not provided [RCV000908720] Chr5:72196142 [GRCh38]
Chr5:71491969 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.3000C>T (p.Ala1000=) single nucleotide variant not provided [RCV000961620] Chr5:72196355 [GRCh38]
Chr5:71492182 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.2035G>T (p.Glu679Ter) single nucleotide variant Periventricular nodular heterotopia 9 [RCV001195720] Chr5:72195390 [GRCh38]
Chr5:71491217 [GRCh37]
Chr5:5q13.2
pathogenic
NM_005909.5(MAP1B):c.2289A>G (p.Glu763=) single nucleotide variant not provided [RCV000934550] Chr5:72195644 [GRCh38]
Chr5:71491471 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.2013G>A (p.Lys671=) single nucleotide variant not provided [RCV000957857] Chr5:72195368 [GRCh38]
Chr5:71491195 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.2430G>A (p.Ala810=) single nucleotide variant not provided [RCV000913578] Chr5:72195785 [GRCh38]
Chr5:71491612 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.513C>T (p.Ile171=) single nucleotide variant not provided [RCV000956285] Chr5:72193868 [GRCh38]
Chr5:71489695 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.2682G>A (p.Glu894=) single nucleotide variant not provided [RCV000956286] Chr5:72196037 [GRCh38]
Chr5:71491864 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.4629C>T (p.Tyr1543=) single nucleotide variant not provided [RCV000912072] Chr5:72197984 [GRCh38]
Chr5:71493811 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter) single nucleotide variant Autism spectrum disorder [RCV000984868]|Neurodevelopmental disorder [RCV001262715]|Periventricular nodular heterotopia 9 [RCV001195719] Chr5:72198345 [GRCh38]
Chr5:71494172 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|risk factor
NM_005909.5(MAP1B):c.2655C>G (p.Thr885=) single nucleotide variant not provided [RCV000890169] Chr5:72196010 [GRCh38]
Chr5:71491837 [GRCh37]
Chr5:5q13.2
likely benign
NM_005909.5(MAP1B):c.2619C>T (p.Val873=) single nucleotide variant not provided [RCV000890786] Chr5:72195974 [GRCh38]
Chr5:71491801 [GRCh37]
Chr5:5q13.2
benign
NM_005909.5(MAP1B):c.4357C>G (p.Leu1453Val) single nucleotide variant not provided [RCV001263274] Chr5:72197712 [GRCh38]
Chr5:71493539 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_005909.5(MAP1B):c.4022C>T (p.Thr1341Ile) single nucleotide variant Periventricular nodular heterotopia 9 [RCV001198368] Chr5:72197377 [GRCh38]
Chr5:71493204 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_005909.5(MAP1B):c.348del (p.Asp117fs) deletion not provided [RCV001200517] Chr5:72183804 [GRCh38]
Chr5:71479631 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_005909.5(MAP1B):c.2456del (p.Pro819fs) deletion not provided [RCV001091916] Chr5:72195809 [GRCh38]
Chr5:71491636 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_005909.5(MAP1B):c.3131A>C (p.Tyr1044Ser) single nucleotide variant not provided [RCV001254993] Chr5:72196486 [GRCh38]
Chr5:71492313 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_005909.5(MAP1B):c.397C>G (p.Arg133Gly) single nucleotide variant Seizures [RCV001256125] Chr5:72186641 [GRCh38]
Chr5:71482468 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:71017577-72056514)x1 copy number loss not provided [RCV001258857] Chr5:71017577..72056514 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_005909.5(MAP1B):c.6106dup (p.Asp2036fs) duplication Inborn genetic diseases [RCV001267313] Chr5:72199460..72199461 [GRCh38]
Chr5:71495287..71495288 [GRCh37]
Chr5:5q13.2
pathogenic
NM_005909.5(MAP1B):c.1179G>A (p.Met393Ile) single nucleotide variant Periventricular nodular heterotopia 9 [RCV001270706] Chr5:72194534 [GRCh38]
Chr5:71490361 [GRCh37]
Chr5:5q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6836 AgrOrtholog
COSMIC MAP1B COSMIC
Ensembl Genes ENSG00000131711 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000296755 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423416 UniProtKB/TrEMBL
  ENSP00000423444 UniProtKB/TrEMBL
  ENSP00000426312 UniProtKB/TrEMBL
  ENSP00000427194 UniProtKB/TrEMBL
Ensembl Transcript ENST00000296755 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000504492 UniProtKB/TrEMBL
  ENST00000511641 UniProtKB/TrEMBL
  ENST00000512974 UniProtKB/TrEMBL
  ENST00000513526 UniProtKB/TrEMBL
GTEx ENSG00000131711 GTEx
HGNC ID HGNC:6836 ENTREZGENE
Human Proteome Map MAP1B Human Proteome Map
InterPro MAP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAP1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAP1B_neuraxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4131 ENTREZGENE
OMIM 157129 OMIM
  618918 OMIM
PANTHER PTHR13843 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13843:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MAP1B_neuraxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30581 PharmGKB
PROSITE MAP1B_NEURAXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAM4_HUMAN UniProtKB/TrEMBL
  A2BDK6 ENTREZGENE, UniProtKB/TrEMBL
  A5D6X1_HUMAN UniProtKB/TrEMBL
  A5D8X6_HUMAN UniProtKB/TrEMBL
  D6RA32_HUMAN UniProtKB/TrEMBL
  D6RA40_HUMAN UniProtKB/TrEMBL
  D6RCL2_HUMAN UniProtKB/TrEMBL
  D6RGJ3_HUMAN UniProtKB/TrEMBL
  MAP1B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05BW8_HUMAN UniProtKB/TrEMBL
  Q32NB7_HUMAN UniProtKB/TrEMBL
  Q4VBY4_HUMAN UniProtKB/TrEMBL
  Q6PJD3 ENTREZGENE, UniProtKB/TrEMBL
  Q86X89 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A2BDK5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 MAP1B  microtubule associated protein 1B  MAP1B  microtubule-associated protein 1B  Symbol and/or name change 5135510 APPROVED