MISP (mitotic spindle positioning) - Rat Genome Database

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Gene: MISP (mitotic spindle positioning) Homo sapiens
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Symbol: MISP
Name: mitotic spindle positioning
RGD ID: 1317766
HGNC Page HGNC:27000
Description: Enables actin filament binding activity. Involved in several processes, including establishment of centrosome localization; microtubule cytoskeleton organization involved in mitosis; and regulation of protein localization to cell cortex. Located in several cellular components, including cytoskeleton; focal adhesion; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C19orf21; caprice; DKFZp686H18209; hypothetical protein LOC126353; MISP1; mitotic interactor and substrate of Plk1; mitotic spindle positioning protein; uncharacterized protein C19orf21
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819748,438 - 764,318 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19751,112 - 764,318 (+)EnsemblGRCh38hg38GRCh38
GRCh3719751,112 - 764,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619702,146 - 715,318 (+)NCBINCBI36Build 36hg18NCBI36
Build 3419702,145 - 715,319NCBI
Celera1952,059 - 65,229 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19520,795 - 533,963 (+)NCBIHuRef
CHM1_119750,590 - 763,759 (+)NCBICHM1_1
T2T-CHM13v2.019702,466 - 718,374 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:15489334   PMID:16083285   PMID:16565220   PMID:17081983   PMID:19170763   PMID:20360068   PMID:23509069   PMID:23574715   PMID:24475924   PMID:26496610   PMID:26760575   PMID:27114546  
PMID:27342126   PMID:28378594   PMID:28514442   PMID:29117863   PMID:29669740   PMID:30344098   PMID:30413534   PMID:30804502   PMID:30884312   PMID:31010829   PMID:31180492   PMID:31298480  
PMID:31300519   PMID:31324722   PMID:31586073   PMID:31980649   PMID:32296183   PMID:32521226   PMID:32687490   PMID:32780723   PMID:32971831   PMID:33024031   PMID:33144569   PMID:33397691  
PMID:33545068   PMID:33961781   PMID:34023777   PMID:35676659   PMID:35819319   PMID:35833506   PMID:35896951   PMID:35906200   PMID:35973989   PMID:36042349   PMID:36199071   PMID:36215168  
PMID:36217030   PMID:36526897   PMID:36574265   PMID:36779422   PMID:37052853   PMID:38057358   PMID:38330117   PMID:38588808   PMID:38785491   PMID:38943005  


Genomics

Comparative Map Data
MISP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819748,438 - 764,318 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19751,112 - 764,318 (+)EnsemblGRCh38hg38GRCh38
GRCh3719751,112 - 764,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619702,146 - 715,318 (+)NCBINCBI36Build 36hg18NCBI36
Build 3419702,145 - 715,319NCBI
Celera1952,059 - 65,229 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19520,795 - 533,963 (+)NCBIHuRef
CHM1_119750,590 - 763,759 (+)NCBICHM1_1
T2T-CHM13v2.019702,466 - 718,374 (+)NCBIT2T-CHM13v2.0
Misp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,656,853 - 79,666,286 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1079,656,823 - 79,666,324 (+)EnsemblGRCm39 Ensembl
GRCm381079,821,019 - 79,830,452 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,820,989 - 79,830,490 (+)EnsemblGRCm38mm10GRCm38
MGSCv371079,283,766 - 79,293,197 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,224,150 - 79,233,581 (+)NCBIMGSCv36mm8
Celera1080,835,820 - 80,845,252 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Misp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8710,526,980 - 10,537,159 (-)NCBIGRCr8
mRatBN7.279,870,390 - 9,886,541 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,870,444 - 9,886,541 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,756,866 - 12,767,052 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0714,634,945 - 14,645,132 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0712,494,741 - 12,504,920 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0712,691,834 - 12,707,927 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,697,743 - 12,707,922 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,861,587 - 12,877,644 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,389,248 - 11,399,427 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera78,051,026 - 8,061,205 (-)NCBICelera
Cytogenetic Map7q11NCBI
Misp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554957,032,876 - 7,038,916 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554957,034,664 - 7,044,886 (-)NCBIChiLan1.0ChiLan1.0
MISP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2205,076,766 - 5,093,880 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,314,863 - 4,331,763 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v019369,238 - 383,633 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.119717,766 - 731,942 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl19717,766 - 731,942 (+)Ensemblpanpan1.1panPan2
MISP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,839,423 - 57,847,013 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,838,731 - 57,843,219 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,641,618 - 57,647,893 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,581,930 - 58,588,205 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,581,165 - 58,585,729 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,636,448 - 57,642,628 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02058,115,878 - 58,122,076 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02058,319,170 - 58,325,443 (-)NCBIUU_Cfam_GSD_1.0
Misp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,540,716 - 217,550,768 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936588290,662 - 294,248 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936588290,620 - 294,058 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MISP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,602,142 - 77,619,087 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,607,185 - 77,619,124 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2278,316,218 - 78,324,105 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MISP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16505,841 - 520,758 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl6506,482 - 520,827 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660818,403,707 - 8,451,647 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Misp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248287,800,424 - 7,812,035 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MISP
96 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-819679)x3 copy number gain See cases [RCV000051144] Chr19:259395..819679 [GRCh38]
Chr19:259395..819679 [GRCh37]
Chr19:210395..770679 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:677680-899104)x3 copy number gain See cases [RCV000054105] Chr19:677680..899104 [GRCh38]
Chr19:677680..899104 [GRCh37]
Chr19:628680..850104 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_173481.2(MISP):c.2039G>A (p.Ter680=) single nucleotide variant Malignant melanoma [RCV000072444] Chr19:763589 [GRCh38]
Chr19:763589 [GRCh37]
Chr19:714589 [NCBI36]
Chr19:19p13.3		 not provided
NM_001040134.1(PALM):c.826C>T (p.Leu276Phe) single nucleotide variant Malignant melanoma [RCV000072441] Chr19:746608 [GRCh38]
Chr19:746608 [GRCh37]
Chr19:697608 [NCBI36]
Chr19:19p13.3		 not provided
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_173481.4(MISP):c.730G>A (p.Val244Met) single nucleotide variant not specified [RCV004295731] Chr19:757676 [GRCh38]
Chr19:757676 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.569A>C (p.Gln190Pro) single nucleotide variant not specified [RCV004290011] Chr19:757515 [GRCh38]
Chr19:757515 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_173481.4(MISP):c.883C>T (p.Arg295Trp) single nucleotide variant not specified [RCV004292278] Chr19:757829 [GRCh38]
Chr19:757829 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_173481.4(MISP):c.1168C>T (p.Arg390Trp) single nucleotide variant not specified [RCV004283739] Chr19:758114 [GRCh38]
Chr19:758114 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.440T>A (p.Ile147Asn) single nucleotide variant not specified [RCV004281817] Chr19:757386 [GRCh38]
Chr19:757386 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:572671-757752)x3 copy number gain not provided [RCV000739940] Chr19:572671..757752 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_173481.4(MISP):c.375C>T (p.Arg125=) single nucleotide variant not provided [RCV000959956] Chr19:757321 [GRCh38]
Chr19:757321 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.688G>T (p.Ala230Ser) single nucleotide variant not provided [RCV000949414] Chr19:757634 [GRCh38]
Chr19:757634 [GRCh37]
Chr19:19p13.3		 benign
NM_173481.4(MISP):c.941G>A (p.Arg314Gln) single nucleotide variant not provided [RCV000950835] Chr19:757887 [GRCh38]
Chr19:757887 [GRCh37]
Chr19:19p13.3		 benign
NM_173481.4(MISP):c.519C>T (p.Pro173=) single nucleotide variant not provided [RCV000906874] Chr19:757465 [GRCh38]
Chr19:757465 [GRCh37]
Chr19:19p13.3		 benign
NM_173481.4(MISP):c.334C>T (p.Arg112Cys) single nucleotide variant not specified [RCV004295831] Chr19:757280 [GRCh38]
Chr19:757280 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_173481.4(MISP):c.1682T>C (p.Val561Ala) single nucleotide variant not specified [RCV004298078] Chr19:758628 [GRCh38]
Chr19:758628 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.673C>T (p.Pro225Ser) single nucleotide variant not specified [RCV004288671] Chr19:757619 [GRCh38]
Chr19:757619 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup duplication Cyclical neutropenia [RCV003107569] Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1175C>T (p.Ala392Val) single nucleotide variant not provided [RCV000907334] Chr19:758121 [GRCh38]
Chr19:758121 [GRCh37]
Chr19:19p13.3		 benign
NM_173481.4(MISP):c.91T>C (p.Tyr31His) single nucleotide variant not provided [RCV000948466] Chr19:757037 [GRCh38]
Chr19:757037 [GRCh37]
Chr19:19p13.3		 benign
NM_173481.4(MISP):c.702C>G (p.Phe234Leu) single nucleotide variant not provided [RCV000887112] Chr19:757648 [GRCh38]
Chr19:757648 [GRCh37]
Chr19:19p13.3		 benign
NM_173481.4(MISP):c.408G>A (p.Leu136=) single nucleotide variant not provided [RCV000957799] Chr19:757354 [GRCh38]
Chr19:757354 [GRCh37]
Chr19:19p13.3		 benign
NM_173481.4(MISP):c.537G>A (p.Thr179=) single nucleotide variant not provided [RCV000957800] Chr19:757483 [GRCh38]
Chr19:757483 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.68T>C (p.Leu23Pro) single nucleotide variant not specified [RCV004311782] Chr19:757014 [GRCh38]
Chr19:757014 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1106571_?)del deletion Cyclical neutropenia [RCV001916881]|not provided [RCV001923747] Chr19:589946..1106571 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1319319) copy number loss Peutz-Jeghers syndrome [RCV002280635] Chr19:260911..1319319 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_173481.4(MISP):c.1931C>T (p.Ser644Leu) single nucleotide variant not specified [RCV004076635] Chr19:761644 [GRCh38]
Chr19:761644 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.1121G>A (p.Arg374Gln) single nucleotide variant not specified [RCV004233689] Chr19:758067 [GRCh38]
Chr19:758067 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1466G>A (p.Arg489Gln) single nucleotide variant not specified [RCV004175377] Chr19:758412 [GRCh38]
Chr19:758412 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1021C>T (p.Arg341Trp) single nucleotide variant not specified [RCV004098160] Chr19:757967 [GRCh38]
Chr19:757967 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1120C>T (p.Arg374Trp) single nucleotide variant not specified [RCV004195505] Chr19:758066 [GRCh38]
Chr19:758066 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.208G>A (p.Val70Met) single nucleotide variant not specified [RCV004177106] Chr19:757154 [GRCh38]
Chr19:757154 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1907A>C (p.Gln636Pro) single nucleotide variant not specified [RCV004080860] Chr19:760035 [GRCh38]
Chr19:760035 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1216C>T (p.Arg406Cys) single nucleotide variant not specified [RCV004169660] Chr19:758162 [GRCh38]
Chr19:758162 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.598T>C (p.Phe200Leu) single nucleotide variant not specified [RCV004153923] Chr19:757544 [GRCh38]
Chr19:757544 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.530G>A (p.Arg177Gln) single nucleotide variant not specified [RCV004127098] Chr19:757476 [GRCh38]
Chr19:757476 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.421C>T (p.Arg141Trp) single nucleotide variant not specified [RCV004135983] Chr19:757367 [GRCh38]
Chr19:757367 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.106A>G (p.Met36Val) single nucleotide variant not specified [RCV004110214] Chr19:757052 [GRCh38]
Chr19:757052 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.1520G>A (p.Arg507His) single nucleotide variant not specified [RCV004171261] Chr19:758466 [GRCh38]
Chr19:758466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.283T>G (p.Tyr95Asp) single nucleotide variant not specified [RCV004168166] Chr19:757229 [GRCh38]
Chr19:757229 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.884G>A (p.Arg295Gln) single nucleotide variant not specified [RCV004246624] Chr19:757830 [GRCh38]
Chr19:757830 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1549C>T (p.Pro517Ser) single nucleotide variant not specified [RCV004190354] Chr19:758495 [GRCh38]
Chr19:758495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.242G>A (p.Gly81Glu) single nucleotide variant not specified [RCV004202990] Chr19:757188 [GRCh38]
Chr19:757188 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.181G>T (p.Val61Leu) single nucleotide variant not specified [RCV004091644] Chr19:757127 [GRCh38]
Chr19:757127 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.961G>C (p.Glu321Gln) single nucleotide variant not specified [RCV004123059] Chr19:757907 [GRCh38]
Chr19:757907 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1319C>A (p.Ala440Asp) single nucleotide variant not specified [RCV004101481] Chr19:758265 [GRCh38]
Chr19:758265 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1481C>T (p.Ala494Val) single nucleotide variant not specified [RCV004178804] Chr19:758427 [GRCh38]
Chr19:758427 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1787C>T (p.Thr596Met) single nucleotide variant not specified [RCV004117098] Chr19:759915 [GRCh38]
Chr19:759915 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1520G>T (p.Arg507Leu) single nucleotide variant not specified [RCV004236994] Chr19:758466 [GRCh38]
Chr19:758466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.427C>T (p.Arg143Cys) single nucleotide variant not specified [RCV004187056] Chr19:757373 [GRCh38]
Chr19:757373 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1318G>A (p.Ala440Thr) single nucleotide variant not specified [RCV004101480] Chr19:758264 [GRCh38]
Chr19:758264 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.181G>A (p.Val61Met) single nucleotide variant not specified [RCV004215913] Chr19:757127 [GRCh38]
Chr19:757127 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.77A>G (p.Asp26Gly) single nucleotide variant not specified [RCV004129602] Chr19:757023 [GRCh38]
Chr19:757023 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.757G>A (p.Gly253Arg) single nucleotide variant not specified [RCV004197734] Chr19:757703 [GRCh38]
Chr19:757703 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.839C>T (p.Ala280Val) single nucleotide variant not specified [RCV004075674] Chr19:757785 [GRCh38]
Chr19:757785 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.906G>C (p.Glu302Asp) single nucleotide variant not specified [RCV004166357] Chr19:757852 [GRCh38]
Chr19:757852 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1621T>A (p.Ser541Thr) single nucleotide variant not specified [RCV004189546] Chr19:758567 [GRCh38]
Chr19:758567 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.422G>A (p.Arg141Gln) single nucleotide variant not specified [RCV004092397] Chr19:757368 [GRCh38]
Chr19:757368 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1888G>A (p.Gly630Arg) single nucleotide variant not specified [RCV004213567] Chr19:760016 [GRCh38]
Chr19:760016 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1228C>T (p.Pro410Ser) single nucleotide variant not specified [RCV004241873] Chr19:758174 [GRCh38]
Chr19:758174 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.279G>C (p.Gln93His) single nucleotide variant not specified [RCV004096186] Chr19:757225 [GRCh38]
Chr19:757225 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1666C>T (p.Arg556Cys) single nucleotide variant not specified [RCV004251168] Chr19:758612 [GRCh38]
Chr19:758612 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1169G>A (p.Arg390Gln) single nucleotide variant not specified [RCV004262525] Chr19:758115 [GRCh38]
Chr19:758115 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1280C>A (p.Pro427Gln) single nucleotide variant not specified [RCV004285236] Chr19:758226 [GRCh38]
Chr19:758226 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1621T>C (p.Ser541Pro) single nucleotide variant not specified [RCV004258866] Chr19:758567 [GRCh38]
Chr19:758567 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1816T>C (p.Phe606Leu) single nucleotide variant not specified [RCV004269898] Chr19:759944 [GRCh38]
Chr19:759944 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.1529G>A (p.Arg510Gln) single nucleotide variant not specified [RCV004254930] Chr19:758475 [GRCh38]
Chr19:758475 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1358C>T (p.Ala453Val) single nucleotide variant not specified [RCV004290948] Chr19:758304 [GRCh38]
Chr19:758304 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.653G>T (p.Gly218Val) single nucleotide variant not specified [RCV004300027] Chr19:757599 [GRCh38]
Chr19:757599 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.1783A>C (p.Ile595Leu) single nucleotide variant not specified [RCV004340953] Chr19:759911 [GRCh38]
Chr19:759911 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1513C>T (p.Arg505Cys) single nucleotide variant not specified [RCV004338100] Chr19:758459 [GRCh38]
Chr19:758459 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1730C>G (p.Thr577Arg) single nucleotide variant not specified [RCV004339152] Chr19:758676 [GRCh38]
Chr19:758676 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1162G>A (p.Gly388Arg) single nucleotide variant not specified [RCV004349364] Chr19:758108 [GRCh38]
Chr19:758108 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_173481.4(MISP):c.1002G>A (p.Leu334=) single nucleotide variant not provided [RCV003423141] Chr19:757948 [GRCh38]
Chr19:757948 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1 copy number loss not specified [RCV003986113] Chr19:260911..1210337 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3 copy number gain not specified [RCV003986107] Chr19:352288..1186507 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.799T>A (p.Trp267Arg) single nucleotide variant not specified [RCV004422130] Chr19:757745 [GRCh38]
Chr19:757745 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.947C>T (p.Ala316Val) single nucleotide variant not specified [RCV004422134] Chr19:757893 [GRCh38]
Chr19:757893 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1051G>A (p.Val351Met) single nucleotide variant not specified [RCV004422107] Chr19:757997 [GRCh38]
Chr19:757997 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1135G>A (p.Asp379Asn) single nucleotide variant not specified [RCV004422108] Chr19:758081 [GRCh38]
Chr19:758081 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1220C>T (p.Ala407Val) single nucleotide variant not specified [RCV004422109] Chr19:758166 [GRCh38]
Chr19:758166 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1373C>T (p.Ala458Val) single nucleotide variant not specified [RCV004422112] Chr19:758319 [GRCh38]
Chr19:758319 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1514G>A (p.Arg505His) single nucleotide variant not specified [RCV004422113] Chr19:758460 [GRCh38]
Chr19:758460 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.1611G>T (p.Arg537Ser) single nucleotide variant not specified [RCV004422114] Chr19:758557 [GRCh38]
Chr19:758557 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1915G>A (p.Ala639Thr) single nucleotide variant not specified [RCV004422116] Chr19:761628 [GRCh38]
Chr19:761628 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.2020G>A (p.Ala674Thr) single nucleotide variant not specified [RCV004422119] Chr19:763570 [GRCh38]
Chr19:763570 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.569A>G (p.Gln190Arg) single nucleotide variant not specified [RCV004422125] Chr19:757515 [GRCh38]
Chr19:757515 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.854C>T (p.Pro285Leu) single nucleotide variant not specified [RCV004422132] Chr19:757800 [GRCh38]
Chr19:757800 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.964C>G (p.Leu322Val) single nucleotide variant not specified [RCV004422135] Chr19:757910 [GRCh38]
Chr19:757910 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1324G>A (p.Gly442Arg) single nucleotide variant not specified [RCV004422111] Chr19:758270 [GRCh38]
Chr19:758270 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1943A>T (p.Asn648Ile) single nucleotide variant not specified [RCV004422118] Chr19:761656 [GRCh38]
Chr19:761656 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.479C>T (p.Thr160Met) single nucleotide variant not specified [RCV004422123] Chr19:757425 [GRCh38]
Chr19:757425 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.520G>A (p.Gly174Ser) single nucleotide variant not specified [RCV004422124] Chr19:757466 [GRCh38]
Chr19:757466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.574G>A (p.Asp192Asn) single nucleotide variant not specified [RCV004422126] Chr19:757520 [GRCh38]
Chr19:757520 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.7C>T (p.Arg3Cys) single nucleotide variant not specified [RCV004422131] Chr19:756953 [GRCh38]
Chr19:756953 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.907C>T (p.Arg303Cys) single nucleotide variant not specified [RCV004422133] Chr19:757853 [GRCh38]
Chr19:757853 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1256G>A (p.Arg419His) single nucleotide variant not specified [RCV004422110] Chr19:758202 [GRCh38]
Chr19:758202 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.313G>A (p.Gly105Arg) single nucleotide variant not specified [RCV004422120] Chr19:757259 [GRCh38]
Chr19:757259 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.718G>C (p.Ala240Pro) single nucleotide variant not specified [RCV004422128] Chr19:757664 [GRCh38]
Chr19:757664 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.374G>T (p.Arg125Leu) single nucleotide variant not specified [RCV004422121] Chr19:757320 [GRCh38]
Chr19:757320 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.986C>T (p.Pro329Leu) single nucleotide variant not specified [RCV004422136] Chr19:757932 [GRCh38]
Chr19:757932 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1723T>C (p.Ser575Pro) single nucleotide variant not specified [RCV004422115] Chr19:758669 [GRCh38]
Chr19:758669 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1943A>G (p.Asn648Ser) single nucleotide variant not specified [RCV004422117] Chr19:761656 [GRCh38]
Chr19:761656 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.724G>A (p.Gly242Arg) single nucleotide variant not specified [RCV004422129] Chr19:757670 [GRCh38]
Chr19:757670 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.908G>A (p.Arg303His) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557806] Chr19:757854 [GRCh38]
Chr19:757854 [GRCh37]
Chr19:19p13.3		 likely benign
NM_173481.4(MISP):c.730G>C (p.Val244Leu) single nucleotide variant not specified [RCV004640834] Chr19:757676 [GRCh38]
Chr19:757676 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1318G>C (p.Ala440Pro) single nucleotide variant not specified [RCV004640829] Chr19:758264 [GRCh38]
Chr19:758264 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1204G>A (p.Ala402Thr) single nucleotide variant not specified [RCV004640833] Chr19:758150 [GRCh38]
Chr19:758150 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.746C>A (p.Pro249His) single nucleotide variant not specified [RCV004640835] Chr19:757692 [GRCh38]
Chr19:757692 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.644C>T (p.Pro215Leu) single nucleotide variant not specified [RCV004640830] Chr19:757590 [GRCh38]
Chr19:757590 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1217G>A (p.Arg406His) single nucleotide variant not specified [RCV004640831] Chr19:758163 [GRCh38]
Chr19:758163 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_173481.4(MISP):c.1084G>A (p.Glu362Lys) single nucleotide variant not specified [RCV004640832] Chr19:758030 [GRCh38]
Chr19:758030 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:369
Count of miRNA genes:282
Interacting mature miRNAs:299
Transcripts:ENST00000215582
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
RH48642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719764,167 - 764,301UniSTSGRCh37
Build 3619715,167 - 715,301RGDNCBI36
Celera1952,076 - 52,210RGD
Cytogenetic Map19p13.3UniSTS
HuRef19533,812 - 533,946UniSTS
GeneMap99-GB4 RH Map191.61UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1169 2308 2273 1709 4820 1566 2240 6 531 1279 375 2200 5610 5098 47 3654 830 1732 1595 174 1

Sequence


Ensembl Acc Id: ENST00000215582   ⟹   ENSP00000215582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19751,112 - 764,318 (+)Ensembl
Ensembl Acc Id: ENST00000614180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19758,063 - 760,505 (+)Ensembl
RefSeq Acc Id: NM_173481   ⟹   NP_775752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819751,112 - 764,318 (+)NCBI
GRCh3719750,910 - 764,318 (+)NCBI
Build 3619702,146 - 715,318 (+)NCBI Archive
Celera1952,059 - 65,229 (-)RGD
HuRef19520,795 - 533,963 (+)RGD
CHM1_119750,557 - 763,760 (+)NCBI
T2T-CHM13v2.019705,170 - 718,374 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135168
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819751,112 - 764,318 (+)NCBI
CHM1_119750,557 - 763,760 (+)NCBI
T2T-CHM13v2.019705,170 - 718,374 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527685   ⟹   XP_011525987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819748,438 - 764,318 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527686   ⟹   XP_011525988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819754,447 - 764,318 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054319805   ⟹   XP_054175780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019702,466 - 718,374 (+)NCBI
RefSeq Acc Id: XM_054319806   ⟹   XP_054175781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019708,504 - 718,374 (+)NCBI
RefSeq Acc Id: NP_775752   ⟸   NM_173481
- UniProtKB: Q8IVT2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525987   ⟸   XM_011527685
- Peptide Label: isoform X1
- UniProtKB: Q8IVT2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525988   ⟸   XM_011527686
- Peptide Label: isoform X1
- UniProtKB: Q8IVT2 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000215582   ⟸   ENST00000215582
RefSeq Acc Id: XP_054175780   ⟸   XM_054319805
- Peptide Label: isoform X1
- UniProtKB: Q8IVT2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054175781   ⟸   XM_054319806
- Peptide Label: isoform X1
- UniProtKB: Q8IVT2 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IVT2-F1-model_v2 AlphaFold Q8IVT2 1-679 view protein structure

Promoters
RGD ID:6795198
Promoter ID:HG_KWN:28335
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000215582
Position:
Human AssemblyChrPosition (strand)Source
Build 3619701,991 - 702,491 (+)MPROMDB
RGD ID:7237723
Promoter ID:EPDNEW_H24607
Type:multiple initiation site
Name:MISP_2
Description:mitotic spindle positioning
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24608  EPDNEW_H24609  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819748,438 - 748,498EPDNEW
RGD ID:7237725
Promoter ID:EPDNEW_H24608
Type:initiation region
Name:MISP_3
Description:mitotic spindle positioning
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24607  EPDNEW_H24609  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819750,856 - 750,916EPDNEW
RGD ID:7237727
Promoter ID:EPDNEW_H24609
Type:initiation region
Name:MISP_1
Description:mitotic spindle positioning
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24607  EPDNEW_H24608  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819751,133 - 751,193EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27000 AgrOrtholog
COSMIC MISP COSMIC
Ensembl Genes ENSG00000099812 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000215582 ENTREZGENE
  ENST00000215582.8 UniProtKB/Swiss-Prot
GTEx ENSG00000099812 GTEx
HGNC ID HGNC:27000 ENTREZGENE
Human Proteome Map MISP Human Proteome Map
InterPro AKAP2_C UniProtKB/Swiss-Prot
  MISP/MISP3 UniProtKB/Swiss-Prot
KEGG Report hsa:126353 UniProtKB/Swiss-Prot
NCBI Gene 126353 ENTREZGENE
OMIM 615289 OMIM
PANTHER MITOTIC INTERACTOR AND SUBSTRATE OF PLK1 UniProtKB/Swiss-Prot
  PTHR18839 UniProtKB/Swiss-Prot
Pfam AKAP2_C UniProtKB/Swiss-Prot
PharmGKB PA134861073 PharmGKB
UniProt MISP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-02 MISP  mitotic spindle positioning  C19orf21  chromosome 19 open reading frame 21  Symbol and/or name change 5135510 APPROVED