VAPA (VAMP associated protein A) - Rat Genome Database

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Gene: VAPA (VAMP associated protein A) Homo sapiens
Analyze
Symbol: VAPA
Name: VAMP associated protein A
RGD ID: 737415
HGNC Page HGNC:12648
Description: Enables FFAT motif binding activity; microtubule binding activity; and protein dimerization activity. Involved in several processes, including endoplasmic reticulum-plasma membrane tethering; lipid transport; and modulation by host of viral genome replication. Located in several cellular components, including Golgi membrane; bicellular tight junction; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 33 kDa VAMP-associated protein; hVAP-33; MGC3745; VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa; VAMP-A; VAMP-associated protein A; VAP-33; VAP-A; VAP33; vesicle-associated membrane protein, associated protein a; vesicle-associated membrane protein-associated protein A
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
GRCh38189,914,016 - 9,960,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,914,016 - 9,960,021 (+)EnsemblGRCh38hg38GRCh38
GRCh37189,914,013 - 9,960,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,903,955 - 9,950,018 (+)NCBINCBI36Build 36hg18NCBI36
Build 34189,903,983 - 9,949,571NCBI
Celera189,797,515 - 9,843,493 (+)NCBICelera
Cytogenetic Map18p11.22NCBI
HuRef189,893,891 - 9,921,843 (+)NCBIHuRef
CHM1_1189,913,226 - 9,959,178 (+)NCBICHM1_1
T2T-CHM13v2.01810,077,467 - 10,123,397 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. Nishimura Y, etal., Biochem Biophys Res Commun 1999 Jan 8;254(1):21-6.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9657962   PMID:10523508   PMID:10544080   PMID:11511104   PMID:12023275   PMID:12477932   PMID:12761501   PMID:14702039   PMID:15016871   PMID:15326295   PMID:15342556   PMID:15489334  
PMID:16227268   PMID:16606821   PMID:16791210   PMID:16895911   PMID:16996479   PMID:18029348   PMID:18160438   PMID:18165232   PMID:18665321   PMID:18713837   PMID:19289470   PMID:19515777  
PMID:19615732   PMID:19665998   PMID:19738201   PMID:20029029   PMID:20178991   PMID:20360068   PMID:20697350   PMID:21144830   PMID:21152411   PMID:21832049   PMID:21873635   PMID:21900206  
PMID:21957124   PMID:21976701   PMID:22045669   PMID:22119785   PMID:22190034   PMID:22268729   PMID:22304920   PMID:22623428   PMID:22810585   PMID:22810586   PMID:22939629   PMID:23142642  
PMID:23284291   PMID:23455922   PMID:23736259   PMID:23840749   PMID:23935497   PMID:23956138   PMID:24105263   PMID:24189400   PMID:24209621   PMID:24223774   PMID:24337577   PMID:24366813  
PMID:24561123   PMID:24569996   PMID:24885147   PMID:25036637   PMID:25332235   PMID:25416956   PMID:25447204   PMID:25468996   PMID:25616068   PMID:25681634   PMID:25754235   PMID:25910212  
PMID:25921289   PMID:25963833   PMID:26186194   PMID:26209609   PMID:26264872   PMID:26344197   PMID:26389662   PMID:26490117   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26972000  
PMID:27173435   PMID:27419871   PMID:27432908   PMID:27637333   PMID:28108526   PMID:28298427   PMID:28377464   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28675297   PMID:28685749  
PMID:29180619   PMID:29229926   PMID:29367253   PMID:29395067   PMID:29467281   PMID:29507755   PMID:29509190   PMID:29511261   PMID:29568061   PMID:29615496   PMID:29791485   PMID:29858488  
PMID:29941597   PMID:29997244   PMID:30018135   PMID:30021884   PMID:30024968   PMID:30194290   PMID:30196744   PMID:30659099   PMID:30741620   PMID:30741634   PMID:30773093   PMID:30797148  
PMID:30804502   PMID:30833792   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31177093   PMID:31180492   PMID:31405213   PMID:31436131   PMID:31527615   PMID:31536960   PMID:31586073  
PMID:31588230   PMID:31732153   PMID:31871319   PMID:31980649   PMID:32129710   PMID:32203420   PMID:32296183   PMID:32344433   PMID:32525583   PMID:32687490   PMID:32707033   PMID:32734583  
PMID:32814053   PMID:32850835   PMID:32877691   PMID:32913203   PMID:32963011   PMID:33022573   PMID:33024031   PMID:33087821   PMID:33124732   PMID:33156328   PMID:33226137   PMID:33239621  
PMID:33545068   PMID:33619796   PMID:33644029   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34186245   PMID:34200728   PMID:34226595   PMID:34312846   PMID:34316702  
PMID:34432599   PMID:34597346   PMID:34672954   PMID:34709727   PMID:34831298   PMID:35013218   PMID:35140242   PMID:35156780   PMID:35182466   PMID:35256949   PMID:35271311   PMID:35384245  
PMID:35562734   PMID:35605301   PMID:35676659   PMID:35831314   PMID:35944360   PMID:36012204   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36244648   PMID:36490346   PMID:36526897  
PMID:36572190   PMID:36610398   PMID:36693319   PMID:36736316   PMID:36949045   PMID:37232246   PMID:37774976   PMID:37827155   PMID:37931956   PMID:38113892  


Genomics

Comparative Map Data
VAPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,914,016 - 9,960,021 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,914,016 - 9,960,021 (+)EnsemblGRCh38hg38GRCh38
GRCh37189,914,013 - 9,960,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,903,955 - 9,950,018 (+)NCBINCBI36Build 36hg18NCBI36
Build 34189,903,983 - 9,949,571NCBI
Celera189,797,515 - 9,843,493 (+)NCBICelera
Cytogenetic Map18p11.22NCBI
HuRef189,893,891 - 9,921,843 (+)NCBIHuRef
CHM1_1189,913,226 - 9,959,178 (+)NCBICHM1_1
T2T-CHM13v2.01810,077,467 - 10,123,397 (+)NCBIT2T-CHM13v2.0
Vapa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391765,887,048 - 65,925,441 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1765,885,322 - 65,920,550 (-)EnsemblGRCm39 Ensembl
GRCm381765,580,053 - 65,616,462 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1765,578,327 - 65,613,555 (-)EnsemblGRCm38mm10GRCm38
MGSCv371765,929,393 - 65,962,895 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361765,479,598 - 65,513,084 (-)NCBIMGSCv36mm8
Celera1769,883,322 - 69,916,704 (-)NCBICelera
Cytogenetic Map17E1.1NCBI
cM Map1734.9NCBI
Vapa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89112,624,791 - 112,654,731 (-)NCBIGRCr8
mRatBN7.29105,177,904 - 105,208,400 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9105,177,907 - 105,207,847 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9113,588,500 - 113,618,316 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09118,698,807 - 118,728,640 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09117,054,450 - 117,084,266 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.09113,300,831 - 113,331,872 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9113,300,832 - 113,331,319 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09112,833,701 - 112,864,112 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49104,339,039 - 104,368,908 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.19104,548,519 - 104,578,388 (-)NCBI
Celera9102,564,697 - 102,594,412 (-)NCBICelera
Cytogenetic Map9q37NCBI
Vapa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554022,270,850 - 2,298,227 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554022,274,248 - 2,309,461 (-)NCBIChiLan1.0ChiLan1.0
VAPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21728,496,390 - 28,537,484 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11814,188,987 - 14,230,079 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0184,329,479 - 4,373,047 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1186,613,042 - 6,642,425 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl186,612,105 - 6,637,829 (-)Ensemblpanpan1.1panPan2
VAPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1775,844,927 - 75,891,811 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl775,845,000 - 75,889,076 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha775,242,387 - 75,289,206 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0775,905,356 - 75,948,878 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl775,905,322 - 75,949,488 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1775,603,405 - 75,650,255 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0775,621,438 - 75,668,178 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0775,930,605 - 75,977,554 (+)NCBIUU_Cfam_GSD_1.0
Vapa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049442,321,989 - 2,357,518 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366261,548,139 - 1,568,656 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366261,550,305 - 1,585,783 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VAPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl698,210,053 - 98,254,226 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1698,212,335 - 98,254,272 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
VAPA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11868,784,786 - 68,825,333 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1868,784,799 - 68,827,581 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605043,739,425 - 43,782,261 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vapa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477018,411,789 - 18,447,009 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477018,411,921 - 18,447,004 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VAPA
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.22(chr18:9518608-10784749)x1 copy number loss See cases [RCV000052075] Chr18:9518608..10784749 [GRCh38]
Chr18:9518606..10784747 [GRCh37]
Chr18:9508606..10774747 [NCBI36]
Chr18:18p11.22		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 copy number gain See cases [RCV000052536] Chr18:3389362..14082029 [GRCh38]
Chr18:3389360..14082028 [GRCh37]
Chr18:3379360..14072028 [NCBI36]
Chr18:18p11.31-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 copy number loss See cases [RCV000053781] Chr18:131700..10536767 [GRCh38]
Chr18:131700..10536764 [GRCh37]
Chr18:121700..10526764 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1 copy number loss See cases [RCV000053828] Chr18:7154668..10068356 [GRCh38]
Chr18:7154667..10068353 [GRCh37]
Chr18:7144667..10058353 [NCBI36]
Chr18:18p11.31-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3 copy number gain See cases [RCV000136590] Chr18:2425507..11904118 [GRCh38]
Chr18:2425506..11904117 [GRCh37]
Chr18:2415506..11894117 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 copy number loss See cases [RCV000136860] Chr18:180229..10762632 [GRCh38]
Chr18:180229..10762630 [GRCh37]
Chr18:170229..10752630 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 copy number loss See cases [RCV000137105] Chr18:148963..10900517 [GRCh38]
Chr18:148963..10900515 [GRCh37]
Chr18:138963..10890515 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 copy number loss See cases [RCV000137503] Chr18:7290175..13049470 [GRCh38]
Chr18:7290173..13049469 [GRCh37]
Chr18:7280173..13039469 [NCBI36]
Chr18:18p11.23-11.21		 likely pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1 copy number loss See cases [RCV000142225] Chr18:958974..11954935 [GRCh38]
Chr18:958975..11954934 [GRCh37]
Chr18:948975..11944934 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1 copy number loss See cases [RCV000240555] Chr18:14316..10784606 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 copy number gain See cases [RCV000447359] Chr18:4465872..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1 copy number loss See cases [RCV000510514] Chr18:9671667..14854484 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.22(chr18:9550555-10226359)x3 copy number gain See cases [RCV000510646] Chr18:9550555..10226359 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_194434.3(VAPA):c.418-5387A>G single nucleotide variant Inborn genetic diseases [RCV003255694] Chr18:9945008 [GRCh38]
Chr18:9945005 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.72A>C (p.Lys24Asn) single nucleotide variant Inborn genetic diseases [RCV003277348] Chr18:9914328 [GRCh38]
Chr18:9914325 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_194434.3(VAPA):c.446C>G (p.Pro149Arg) single nucleotide variant Inborn genetic diseases [RCV003286776] Chr18:9950423 [GRCh38]
Chr18:9950420 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.101C>T (p.Thr34Ile) single nucleotide variant Inborn genetic diseases [RCV003244118] Chr18:9931831 [GRCh38]
Chr18:9931828 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.22(chr18:9878669-10130731)x3 copy number gain not provided [RCV000683987] Chr18:9878669..10130731 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1 copy number loss not provided [RCV000684046] Chr18:136226..10074733 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.22(chr18:9914051-9914937)x1 copy number loss not provided [RCV000739751] Chr18:9914051..9914937 [GRCh37]
Chr18:18p11.22		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1 copy number loss not provided [RCV001006944] Chr18:971295..11250447 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.22(chr18:9900414-10138753)x3 copy number gain not provided [RCV001006943] Chr18:9900414..10138753 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NC_000018.9:g.(?_9102742)_(12725530_?)dup duplication Dystonic disorder [RCV003105519] Chr18:9102742..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941) copy number loss Deletion of short arm of chromosome 18 [RCV002280710] Chr18:136226..10172941 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 copy number loss not provided [RCV001258695] Chr18:7598173..15422644 [GRCh37]
Chr18:18p11.23-11.1		 pathogenic
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.22-11.21(chr18:9569601-12218695)x1 copy number loss See cases [RCV002285046] Chr18:9569601..12218695 [GRCh37]
Chr18:18p11.22-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1 copy number loss not provided [RCV002472559] Chr18:136227..11283184 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_194434.3(VAPA):c.313A>G (p.Asn105Asp) single nucleotide variant Inborn genetic diseases [RCV003263331] Chr18:9936190 [GRCh38]
Chr18:9936187 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.655T>A (p.Ser219Thr) single nucleotide variant Inborn genetic diseases [RCV003287222] Chr18:9954116 [GRCh38]
Chr18:9954113 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.499C>T (p.Leu167Phe) single nucleotide variant Inborn genetic diseases [RCV002784160] Chr18:9950476 [GRCh38]
Chr18:9950473 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.503A>G (p.Asn168Ser) single nucleotide variant Inborn genetic diseases [RCV002798116] Chr18:9950480 [GRCh38]
Chr18:9950477 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.418-5404C>T single nucleotide variant Inborn genetic diseases [RCV002854252] Chr18:9944991 [GRCh38]
Chr18:9944988 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.418-5363A>T single nucleotide variant Inborn genetic diseases [RCV002708905] Chr18:9945032 [GRCh38]
Chr18:9945029 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.446C>T (p.Pro149Leu) single nucleotide variant Inborn genetic diseases [RCV003004575] Chr18:9950423 [GRCh38]
Chr18:9950420 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.581G>A (p.Arg194Gln) single nucleotide variant Inborn genetic diseases [RCV002652205] Chr18:9950558 [GRCh38]
Chr18:9950555 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_194434.3(VAPA):c.481A>G (p.Lys161Glu) single nucleotide variant Inborn genetic diseases [RCV002961060] Chr18:9950458 [GRCh38]
Chr18:9950455 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
NM_194434.3(VAPA):c.11C>T (p.Ala4Val) single nucleotide variant Inborn genetic diseases [RCV003205094] Chr18:9914267 [GRCh38]
Chr18:9914264 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.22(chr18:9609466-10792750)x3 copy number gain not provided [RCV003485173] Chr18:9609466..10792750 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_194434.3(VAPA):c.418-5376C>T single nucleotide variant not provided [RCV003413414] Chr18:9945019 [GRCh38]
Chr18:9945016 [GRCh37]
Chr18:18p11.22		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 copy number gain not specified [RCV003986102] Chr18:136227..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 copy number loss not specified [RCV003987287] Chr18:136226..15161581 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3 copy number gain not specified [RCV003987271] Chr18:2922899..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 copy number gain not specified [RCV003987266] Chr18:136226..14148354 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 copy number gain not specified [RCV003987269] Chr18:136226..14455323 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1 copy number loss not specified [RCV003987270] Chr18:136226..10365982 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 copy number loss not specified [RCV003987292] Chr18:136226..14352648 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2969
Count of miRNA genes:1188
Interacting mature miRNAs:1501
Transcripts:ENST00000340541, ENST00000400000, ENST00000577539, ENST00000577901, ENST00000578314, ENST00000583475, ENST00000583879, ENST00000584796, ENST00000585042
Prediction methods:Microtar, 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.

Markers in Region
RH92706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,959,743 - 9,959,864UniSTSGRCh37
Build 36189,949,743 - 9,949,864RGDNCBI36
Celera189,843,218 - 9,843,339RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,921,568 - 9,921,689UniSTS
GeneMap99-GB4 RH Map1863.49UniSTS
RH76596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,954,604 - 9,954,775UniSTSGRCh37
Build 36189,944,604 - 9,944,775RGDNCBI36
Celera189,838,079 - 9,838,250RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,916,698 - 9,916,869UniSTS
D18S940E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,958,013 - 9,958,098UniSTSGRCh37
Build 36189,948,013 - 9,948,098RGDNCBI36
Celera189,841,487 - 9,841,572RGD
Cytogenetic Map18p11.22UniSTS
SHGC-34906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,958,490 - 9,958,625UniSTSGRCh37
Build 36189,948,490 - 9,948,625RGDNCBI36
Celera189,841,964 - 9,842,099RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,920,315 - 9,920,450UniSTS
Stanford-G3 RH Map18322.0UniSTS
GeneMap99-GB4 RH Map1862.55UniSTS
Whitehead-RH Map1857.9UniSTS
Whitehead-RH Map1845.6UniSTS
NCBI RH Map1875.6UniSTS
GeneMap99-G3 RH Map18322.0UniSTS
SHGC-32407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,959,418 - 9,959,544UniSTSGRCh37
Build 36189,949,418 - 9,949,544RGDNCBI36
Celera189,842,892 - 9,843,018RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,921,243 - 9,921,369UniSTS
TNG Radiation Hybrid Map185015.0UniSTS
Stanford-G3 RH Map18331.0UniSTS
GeneMap99-GB4 RH Map1879.55UniSTS
Whitehead-RH Map1858.1UniSTS
NCBI RH Map1888.3UniSTS
GeneMap99-G3 RH Map18331.0UniSTS
D18S1196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,956,534 - 9,956,633UniSTSGRCh37
Build 36189,946,534 - 9,946,633RGDNCBI36
Celera189,840,009 - 9,840,108RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,918,628 - 9,918,727UniSTS
GeneMap99-GB4 RH Map1880.49UniSTS
Whitehead-RH Map1856.1UniSTS
Whitehead-YAC Contig Map18 UniSTS
RH35901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,958,355 - 9,958,544UniSTSGRCh37
Build 36189,948,355 - 9,948,544RGDNCBI36
Celera189,841,829 - 9,842,018RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,920,180 - 9,920,369UniSTS
GeneMap99-GB4 RH Map1879.65UniSTS
G20701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,956,495 - 9,956,647UniSTSGRCh37
Build 36189,946,495 - 9,946,647RGDNCBI36
Celera189,839,970 - 9,840,122RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,918,589 - 9,918,741UniSTS
A006C24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,956,495 - 9,956,647UniSTSGRCh37
Build 36189,946,495 - 9,946,647RGDNCBI36
Celera189,839,970 - 9,840,122RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,918,589 - 9,918,741UniSTS
GeneMap99-GB4 RH Map1879.69UniSTS
A006V14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,958,174 - 9,958,282UniSTSGRCh37
Build 36189,948,174 - 9,948,282RGDNCBI36
Celera189,841,648 - 9,841,756RGD
Cytogenetic Map18p11.22UniSTS
GeneMap99-GB4 RH Map1879.96UniSTS
NCBI RH Map1879.8UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS


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
Medium 2433 2797 1652 552 1889 393 4357 2080 3617 405 1454 1610 175 1 1203 2788 6 2
Low 6 194 74 72 62 72 117 117 14 6 3 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF044670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF057358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF154847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG488667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG719406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP209270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340541   ⟹   ENSP00000345656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,914,062 - 9,954,358 (+)Ensembl
RefSeq Acc Id: ENST00000400000   ⟹   ENSP00000382880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,914,016 - 9,960,021 (+)Ensembl
RefSeq Acc Id: ENST00000577539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,947,594 - 9,951,353 (+)Ensembl
RefSeq Acc Id: ENST00000577901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,914,052 - 9,936,589 (+)Ensembl
RefSeq Acc Id: ENST00000578314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,914,613 - 9,925,074 (+)Ensembl
RefSeq Acc Id: ENST00000583475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,936,727 - 9,954,477 (+)Ensembl
RefSeq Acc Id: ENST00000583879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,931,777 - 9,954,226 (+)Ensembl
RefSeq Acc Id: ENST00000584796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,915,770 - 9,954,143 (+)Ensembl
RefSeq Acc Id: ENST00000585042   ⟹   ENSP00000463155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,914,063 - 9,936,157 (+)Ensembl
RefSeq Acc Id: NM_003574   ⟹   NP_003565
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,914,016 - 9,960,021 (+)NCBI
GRCh37189,913,955 - 9,960,018 (+)ENTREZGENE
Build 36189,903,955 - 9,950,018 (+)NCBI Archive
HuRef189,893,891 - 9,921,843 (+)ENTREZGENE
CHM1_1189,913,226 - 9,959,178 (+)NCBI
T2T-CHM13v2.01810,077,467 - 10,123,397 (+)NCBI
Sequence:
RefSeq Acc Id: NM_194434   ⟹   NP_919415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,914,016 - 9,960,021 (+)NCBI
GRCh37189,913,955 - 9,960,018 (+)ENTREZGENE
Build 36189,903,955 - 9,950,018 (+)NCBI Archive
HuRef189,893,891 - 9,921,843 (+)ENTREZGENE
CHM1_1189,913,226 - 9,959,178 (+)NCBI
T2T-CHM13v2.01810,077,467 - 10,123,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026079   ⟹   XP_016881568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,914,604 - 9,960,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437928   ⟹   XP_047293884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,924,265 - 9,960,021 (+)NCBI
RefSeq Acc Id: XM_047437929   ⟹   XP_047293885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,914,604 - 9,960,021 (+)NCBI
RefSeq Acc Id: XM_047437930   ⟹   XP_047293886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,914,604 - 9,960,021 (+)NCBI
RefSeq Acc Id: XM_047437931   ⟹   XP_047293887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,924,908 - 9,960,021 (+)NCBI
RefSeq Acc Id: XM_047437932   ⟹   XP_047293888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,914,604 - 9,960,021 (+)NCBI
RefSeq Acc Id: XM_054319353   ⟹   XP_054175328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01810,087,623 - 10,123,397 (+)NCBI
RefSeq Acc Id: XM_054319354   ⟹   XP_054175329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01810,088,266 - 10,123,397 (+)NCBI
RefSeq Acc Id: XM_054319355   ⟹   XP_054175330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01810,078,569 - 10,123,397 (+)NCBI
RefSeq Acc Id: XM_054319356   ⟹   XP_054175331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01810,078,569 - 10,123,397 (+)NCBI
RefSeq Acc Id: XM_054319357   ⟹   XP_054175332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01810,077,953 - 10,123,397 (+)NCBI
RefSeq Acc Id: XM_054319358   ⟹   XP_054175333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01810,088,266 - 10,123,397 (+)NCBI
RefSeq Acc Id: XM_054319359   ⟹   XP_054175334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01810,077,953 - 10,123,397 (+)NCBI
Protein Sequences
Protein RefSeqs NP_003565 (Get FASTA)   NCBI Sequence Viewer  
  NP_919415 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881568 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293884 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293885 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293886 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293887 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293888 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175328 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175329 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175330 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175331 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175332 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175333 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175334 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC26508 (Get FASTA)   NCBI Sequence Viewer  
  AAD09742 (Get FASTA)   NCBI Sequence Viewer  
  AAD13576 (Get FASTA)   NCBI Sequence Viewer  
  AAF72105 (Get FASTA)   NCBI Sequence Viewer  
  AAH02992 (Get FASTA)   NCBI Sequence Viewer  
  AAV38424 (Get FASTA)   NCBI Sequence Viewer  
  ADO22335 (Get FASTA)   NCBI Sequence Viewer  
  BAF85637 (Get FASTA)   NCBI Sequence Viewer  
  BAG37951 (Get FASTA)   NCBI Sequence Viewer  
  EAX01590 (Get FASTA)   NCBI Sequence Viewer  
  EAX01591 (Get FASTA)   NCBI Sequence Viewer  
  EAX01592 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345656
  ENSP00000345656.4
  ENSP00000382880
  ENSP00000382880.3
  ENSP00000463155.1
GenBank Protein Q9P0L0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003565   ⟸   NM_003574
- Peptide Label: isoform 1
- UniProtKB: Q9P0L0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_919415   ⟸   NM_194434
- Peptide Label: isoform 2
- UniProtKB: Q5U0E7 (UniProtKB/Swiss-Prot),   O75453 (UniProtKB/Swiss-Prot),   D3DUI3 (UniProtKB/Swiss-Prot),   A6NDZ0 (UniProtKB/Swiss-Prot),   Q9UBZ2 (UniProtKB/Swiss-Prot),   Q9P0L0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016881568   ⟸   XM_017026079
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000382880   ⟸   ENST00000400000
RefSeq Acc Id: ENSP00000463155   ⟸   ENST00000585042
RefSeq Acc Id: ENSP00000345656   ⟸   ENST00000340541
RefSeq Acc Id: XP_047293885   ⟸   XM_047437929
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293888   ⟸   XM_047437932
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293886   ⟸   XM_047437930
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293884   ⟸   XM_047437928
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293887   ⟸   XM_047437931
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175332   ⟸   XM_054319357
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175334   ⟸   XM_054319359
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175330   ⟸   XM_054319355
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175331   ⟸   XM_054319356
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175328   ⟸   XM_054319353
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175329   ⟸   XM_054319354
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175333   ⟸   XM_054319358
- Peptide Label: isoform X2
Protein Domains
MSP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P0L0-F1-model_v2 AlphaFold Q9P0L0 1-249 view protein structure

Promoters
RGD ID:6795052
Promoter ID:HG_KWN:27608
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003574,   NM_194434
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,903,381 - 9,904,182 (+)MPROMDB
RGD ID:6853600
Promoter ID:EP74630
Type:initiation region
Name:HS_VAPA
Description:VAMP (vesicle-associated membrane protein)-associated protein A,33kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,904,048 - 9,904,108EPD
RGD ID:6811474
Promoter ID:HG_ACW:37356
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:VAPA.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,904,746 - 9,905,246 (+)MPROMDB
RGD ID:7236931
Promoter ID:EPDNEW_H24211
Type:initiation region
Name:VAPA_1
Description:VAMP associated protein A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24212  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,914,029 - 9,914,089EPDNEW
RGD ID:7236933
Promoter ID:EPDNEW_H24212
Type:initiation region
Name:VAPA_2
Description:VAMP associated protein A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24211  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,914,250 - 9,914,310EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12648 AgrOrtholog
COSMIC VAPA COSMIC
Ensembl Genes ENSG00000101558 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340541 ENTREZGENE
  ENST00000340541.4 UniProtKB/Swiss-Prot
  ENST00000400000 ENTREZGENE
  ENST00000400000.7 UniProtKB/Swiss-Prot
  ENST00000585042.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000101558 GTEx
HGNC ID HGNC:12648 ENTREZGENE
Human Proteome Map VAPA Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot
  MSP_dom UniProtKB/Swiss-Prot
  PapD-like_sf UniProtKB/Swiss-Prot
  VAP UniProtKB/Swiss-Prot
KEGG Report hsa:9218 UniProtKB/Swiss-Prot
NCBI Gene 9218 ENTREZGENE
OMIM 605703 OMIM
PANTHER PTHR10809 UniProtKB/Swiss-Prot
  VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN A UniProtKB/Swiss-Prot
Pfam Motile_Sperm UniProtKB/Swiss-Prot
PharmGKB PA37272 PharmGKB
PIRSF VAMP-associated UniProtKB/Swiss-Prot
PROSITE MSP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49354 UniProtKB/Swiss-Prot
UniProt A6NDZ0 ENTREZGENE
  D3DUI3 ENTREZGENE
  J3QKM9_HUMAN UniProtKB/TrEMBL
  O75453 ENTREZGENE
  Q5U0E7 ENTREZGENE
  Q9P0L0 ENTREZGENE
  Q9UBZ2 ENTREZGENE
  VAPA_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NDZ0 UniProtKB/Swiss-Prot
  D3DUI3 UniProtKB/Swiss-Prot
  O75453 UniProtKB/Swiss-Prot
  Q5U0E7 UniProtKB/Swiss-Prot
  Q9UBZ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 VAPA  VAMP associated protein A  VAPA  VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa  Symbol and/or name change 5135510 APPROVED