ANKRD27 (ankyrin repeat domain 27) - Rat Genome Database

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Gene: ANKRD27 (ankyrin repeat domain 27) Homo sapiens
Analyze
Symbol: ANKRD27
Name: ankyrin repeat domain 27
RGD ID: 1316102
HGNC Page HGNC:25310
Description: Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in several cellular components, including cytosol; endosome; and lysosome. Implicated in eosinophilic esophagitis.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ankyrin repeat domain 27 (VPS9 domain); ankyrin repeat domain-containing protein 27; DKFZP434L0718; FLJ00040; PP12899; VARP; Vps9 domain and ankyrin-repeat-containing protein; VPS9 domain-containing protein; VPS9-ankyrin-repeat protein
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
GRCh381932,597,006 - 32,675,180 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1932,597,006 - 32,676,597 (-)EnsemblGRCh38hg38GRCh38
GRCh371933,087,912 - 33,166,086 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361937,779,747 - 37,857,942 (-)NCBINCBI36Build 36hg18NCBI36
Build 341937,779,753 - 37,857,919NCBI
Celera1929,781,556 - 29,859,734 (-)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1929,590,946 - 29,669,349 (-)NCBIHuRef
CHM1_11933,088,999 - 33,167,383 (-)NCBICHM1_1
T2T-CHM13v2.01935,115,771 - 35,193,912 (-)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

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Retromer and sorting nexins in endosomal sorting. Gallon M and Cullen PJ, Biochem Soc Trans. 2015 Feb;43(1):33-47. doi: 10.1042/BST20140290.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. GWAS identifies four novel eosinophilic esophagitis loci. Sleiman PM, etal., Nat Commun. 2014 Nov 19;5:5593. doi: 10.1038/ncomms6593.
6. 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:11076863   PMID:11230166   PMID:11256614   PMID:14702039   PMID:15231748   PMID:15489334   PMID:15489336   PMID:15498874   PMID:16381901   PMID:16525121   PMID:18477474   PMID:19745841  
PMID:19913121   PMID:19946888   PMID:20628086   PMID:21873635   PMID:22705394   PMID:23104059   PMID:23377640   PMID:24856514   PMID:25661869   PMID:26186194   PMID:26496610   PMID:26972000  
PMID:27103185   PMID:27705803   PMID:28514442   PMID:29467282   PMID:29509190   PMID:29568061   PMID:30463901   PMID:31091453   PMID:32807901   PMID:33024112   PMID:33961781   PMID:34079125  
PMID:34315543   PMID:34369648   PMID:34432599   PMID:34597346   PMID:35271311   PMID:35563538   PMID:36538041   PMID:36931259  


Genomics

Comparative Map Data
ANKRD27
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381932,597,006 - 32,675,180 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1932,597,006 - 32,676,597 (-)EnsemblGRCh38hg38GRCh38
GRCh371933,087,912 - 33,166,086 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361937,779,747 - 37,857,942 (-)NCBINCBI36Build 36hg18NCBI36
Build 341937,779,753 - 37,857,919NCBI
Celera1929,781,556 - 29,859,734 (-)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1929,590,946 - 29,669,349 (-)NCBIHuRef
CHM1_11933,088,999 - 33,167,383 (-)NCBICHM1_1
T2T-CHM13v2.01935,115,771 - 35,193,912 (-)NCBIT2T-CHM13v2.0
Ankrd27
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39735,285,652 - 35,338,662 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl735,285,669 - 35,338,651 (+)EnsemblGRCm39 Ensembl
GRCm38735,586,226 - 35,639,237 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl735,586,244 - 35,639,226 (+)EnsemblGRCm38mm10GRCm38
MGSCv37736,371,266 - 36,424,256 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36735,295,013 - 35,349,386 (+)NCBIMGSCv36mm8
Celera730,714,999 - 30,784,611 (+)NCBICelera
Cytogenetic Map7B2NCBI
cM Map721.37NCBI
Ankrd27
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8197,387,997 - 97,440,501 (+)NCBIGRCr8
mRatBN7.2188,251,216 - 88,303,615 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl188,251,226 - 88,303,615 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx193,656,209 - 93,708,456 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01102,122,159 - 102,174,406 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0195,414,492 - 95,466,742 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0191,857,048 - 91,958,763 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl191,857,057 - 91,958,763 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0192,984,820 - 93,090,728 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4188,117,683 - 88,139,762 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1188,195,782 - 88,218,272 (+)NCBI
Celera182,601,058 - 82,651,370 (+)NCBICelera
Cytogenetic Map1q21NCBI
Ankrd27
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554685,324,858 - 5,363,778 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554685,314,779 - 5,364,925 (+)NCBIChiLan1.0ChiLan1.0
ANKRD27
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22038,569,579 - 38,647,248 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11940,566,380 - 40,644,045 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01929,516,853 - 29,594,519 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11938,264,485 - 38,342,604 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1938,264,485 - 38,342,604 (-)Ensemblpanpan1.1panPan2
ANKRD27
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11119,325,132 - 119,377,266 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1119,325,873 - 119,376,948 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1118,723,450 - 118,776,876 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01119,924,453 - 119,978,628 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1119,924,441 - 119,978,601 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11119,487,737 - 119,541,456 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01119,107,807 - 119,161,198 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01120,167,782 - 120,221,482 (+)NCBIUU_Cfam_GSD_1.0
Ankrd27
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093498,548,186 - 8,601,489 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365703,044,565 - 3,098,097 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365703,044,565 - 3,097,692 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKRD27
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl642,501,165 - 42,559,912 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1642,501,167 - 42,559,926 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2638,010,248 - 38,169,868 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANKRD27
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1627,645,474 - 27,724,829 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl627,644,597 - 27,724,819 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660735,220,619 - 5,300,789 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ankrd27
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247947,494,275 - 7,544,671 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANKRD27
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19q13.11(chr19:32469643-32843761)x1 copy number loss See cases [RCV000052094] Chr19:32469643..32843761 [GRCh38]
Chr19:32960549..33334667 [GRCh37]
Chr19:37652389..38026507 [NCBI36]
Chr19:19q13.11		 uncertain significance
NM_032139.2(ANKRD27):c.1266T>C (p.His422=) single nucleotide variant Malignant melanoma [RCV000063498] Chr19:32628793 [GRCh38]
Chr19:33119699 [GRCh37]
Chr19:37811539 [NCBI36]
Chr19:19q13.11		 not provided
NM_032139.2(ANKRD27):c.539C>T (p.Ala180Val) single nucleotide variant Malignant melanoma [RCV000063499] Chr19:32643618 [GRCh38]
Chr19:33134524 [GRCh37]
Chr19:37826364 [NCBI36]
Chr19:19q13.11		 not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12		 pathogenic
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 copy number gain See cases [RCV000143705] Chr19:27780238..34783942 [GRCh38]
Chr19:28271146..35274846 [GRCh37]
Chr19:32962986..39966686 [NCBI36]
Chr19:19q11-13.11		 uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12		 pathogenic
NM_032139.3(ANKRD27):c.2215G>A (p.Val739Met) single nucleotide variant Inborn genetic diseases [RCV003241885] Chr19:32607793 [GRCh38]
Chr19:33098699 [GRCh37]
Chr19:19q13.11		 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_032139.3(ANKRD27):c.1879T>C (p.Ser627Pro) single nucleotide variant Inborn genetic diseases [RCV003255945] Chr19:32619502 [GRCh38]
Chr19:33110408 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2062C>G (p.Leu688Val) single nucleotide variant Inborn genetic diseases [RCV003256186] Chr19:32615771 [GRCh38]
Chr19:33106677 [GRCh37]
Chr19:19q13.11		 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
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-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_032139.3(ANKRD27):c.1564G>T (p.Ala522Ser) single nucleotide variant Inborn genetic diseases [RCV003244369] Chr19:32625939 [GRCh38]
Chr19:33116845 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2624G>A (p.Arg875Gln) single nucleotide variant Inborn genetic diseases [RCV003289674] Chr19:32604294 [GRCh38]
Chr19:33095200 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_032139.3(ANKRD27):c.967A>G (p.Thr323Ala) single nucleotide variant Inborn genetic diseases [RCV003273600] Chr19:32640323 [GRCh38]
Chr19:33131229 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
GRCh37/hg19 19q13.11(chr19:32827535-35263640) copy number gain not specified [RCV002052679] Chr19:32827535..35263640 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q13.11(chr19:33146131-33251180) copy number loss not specified [RCV002052680] Chr19:33146131..33251180 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1913C>T (p.Ser638Phe) single nucleotide variant Inborn genetic diseases [RCV003254195] Chr19:32619354 [GRCh38]
Chr19:33110260 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2240C>T (p.Pro747Leu) single nucleotide variant Inborn genetic diseases [RCV003260333] Chr19:32607768 [GRCh38]
Chr19:33098674 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1016G>T (p.Arg339Met) single nucleotide variant Inborn genetic diseases [RCV002906577] Chr19:32639456 [GRCh38]
Chr19:33130362 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.118A>G (p.Lys40Glu) single nucleotide variant Inborn genetic diseases [RCV002773763] Chr19:32649777 [GRCh38]
Chr19:33140683 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2261A>G (p.His754Arg) single nucleotide variant Inborn genetic diseases [RCV002682386] Chr19:32607747 [GRCh38]
Chr19:33098653 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2890C>G (p.Pro964Ala) single nucleotide variant Inborn genetic diseases [RCV002859838] Chr19:32599733 [GRCh38]
Chr19:33090639 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1567G>C (p.Glu523Gln) single nucleotide variant Inborn genetic diseases [RCV002841160] Chr19:32625936 [GRCh38]
Chr19:33116842 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2971G>A (p.Gly991Arg) single nucleotide variant Inborn genetic diseases [RCV002861192] Chr19:32598327 [GRCh38]
Chr19:33089233 [GRCh37]
Chr19:19q13.11		 likely benign
NM_032139.3(ANKRD27):c.2176A>G (p.Arg726Gly) single nucleotide variant Inborn genetic diseases [RCV002882462] Chr19:32607832 [GRCh38]
Chr19:33098738 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1423C>G (p.Gln475Glu) single nucleotide variant Inborn genetic diseases [RCV002865456] Chr19:32626825 [GRCh38]
Chr19:33117731 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2768G>C (p.Trp923Ser) single nucleotide variant Inborn genetic diseases [RCV002868434] Chr19:32600050 [GRCh38]
Chr19:33090956 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1565C>T (p.Ala522Val) single nucleotide variant Inborn genetic diseases [RCV002704483] Chr19:32625938 [GRCh38]
Chr19:33116844 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2267G>C (p.Arg756Pro) single nucleotide variant Inborn genetic diseases [RCV002797639] Chr19:32607741 [GRCh38]
Chr19:33098647 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1364C>T (p.Thr455Ile) single nucleotide variant Inborn genetic diseases [RCV002798538] Chr19:32628139 [GRCh38]
Chr19:33119045 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2578G>A (p.Glu860Lys) single nucleotide variant Inborn genetic diseases [RCV002660312] Chr19:32604340 [GRCh38]
Chr19:33095246 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.682G>C (p.Val228Leu) single nucleotide variant Inborn genetic diseases [RCV002821664] Chr19:32643310 [GRCh38]
Chr19:33134216 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.580C>A (p.His194Asn) single nucleotide variant Inborn genetic diseases [RCV002644985] Chr19:32643577 [GRCh38]
Chr19:33134483 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1639G>T (p.Ala547Ser) single nucleotide variant Inborn genetic diseases [RCV002854454] Chr19:32622610 [GRCh38]
Chr19:33113516 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2575G>A (p.Val859Ile) single nucleotide variant Inborn genetic diseases [RCV002983791] Chr19:32604343 [GRCh38]
Chr19:33095249 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1869G>C (p.Arg623Ser) single nucleotide variant Inborn genetic diseases [RCV002892692] Chr19:32619512 [GRCh38]
Chr19:33110418 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1403A>T (p.His468Leu) single nucleotide variant Inborn genetic diseases [RCV002873325] Chr19:32628100 [GRCh38]
Chr19:33119006 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.634G>C (p.Val212Leu) single nucleotide variant Inborn genetic diseases [RCV002850161] Chr19:32643436 [GRCh38]
Chr19:33134342 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.626A>G (p.Lys209Arg) single nucleotide variant Inborn genetic diseases [RCV002804861] Chr19:32643444 [GRCh38]
Chr19:33134350 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.477C>G (p.Phe159Leu) single nucleotide variant Inborn genetic diseases [RCV002665564] Chr19:32644373 [GRCh38]
Chr19:33135279 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.812T>C (p.Leu271Pro) single nucleotide variant Inborn genetic diseases [RCV002835916] Chr19:32642116 [GRCh38]
Chr19:33133022 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.809A>G (p.Glu270Gly) single nucleotide variant Inborn genetic diseases [RCV002746911] Chr19:32642119 [GRCh38]
Chr19:33133025 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1910G>T (p.Arg637Leu) single nucleotide variant Inborn genetic diseases [RCV002832373] Chr19:32619357 [GRCh38]
Chr19:33110263 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1721G>A (p.Arg574His) single nucleotide variant Inborn genetic diseases [RCV002898293] Chr19:32622528 [GRCh38]
Chr19:33113434 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1882T>C (p.Ser628Pro) single nucleotide variant Inborn genetic diseases [RCV002940896] Chr19:32619499 [GRCh38]
Chr19:33110405 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2381A>C (p.Lys794Thr) single nucleotide variant Inborn genetic diseases [RCV002812509] Chr19:32605947 [GRCh38]
Chr19:33096853 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.448G>A (p.Glu150Lys) single nucleotide variant Inborn genetic diseases [RCV002656449] Chr19:32644402 [GRCh38]
Chr19:33135308 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.890C>G (p.Ser297Cys) single nucleotide variant Inborn genetic diseases [RCV002723767] Chr19:32642038 [GRCh38]
Chr19:33132944 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1664C>T (p.Ser555Leu) single nucleotide variant Inborn genetic diseases [RCV003215790] Chr19:32622585 [GRCh38]
Chr19:33113491 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.62G>A (p.Arg21His) single nucleotide variant Inborn genetic diseases [RCV003205018] Chr19:32658954 [GRCh38]
Chr19:33149860 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2855C>T (p.Thr952Ile) single nucleotide variant Inborn genetic diseases [RCV003198413] Chr19:32599768 [GRCh38]
Chr19:33090674 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.691A>G (p.Met231Val) single nucleotide variant Inborn genetic diseases [RCV003344468] Chr19:32643301 [GRCh38]
Chr19:33134207 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2053G>T (p.Val685Leu) single nucleotide variant Inborn genetic diseases [RCV003361851] Chr19:32615780 [GRCh38]
Chr19:33106686 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1112C>G (p.Pro371Arg) single nucleotide variant Inborn genetic diseases [RCV003354086] Chr19:32639360 [GRCh38]
Chr19:33130266 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.1004T>C (p.Ile335Thr) single nucleotide variant Inborn genetic diseases [RCV003350973] Chr19:32639468 [GRCh38]
Chr19:33130374 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2641G>A (p.Asp881Asn) single nucleotide variant Inborn genetic diseases [RCV003351337] Chr19:32604277 [GRCh38]
Chr19:33095183 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3 copy number gain not provided [RCV003485197] Chr19:32052961..34144873 [GRCh37]
Chr19:19q12-13.11		 uncertain significance
NM_032139.3(ANKRD27):c.2222G>A (p.Ser741Asn) single nucleotide variant not provided [RCV003406924] Chr19:32607786 [GRCh38]
Chr19:33098692 [GRCh37]
Chr19:19q13.11		 likely benign
NM_032139.3(ANKRD27):c.2121C>T (p.Asp707=) single nucleotide variant not provided [RCV003406925] Chr19:32615712 [GRCh38]
Chr19:33106618 [GRCh37]
Chr19:19q13.11		 likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2860
Count of miRNA genes:1181
Interacting mature miRNAs:1479
Transcripts:ENST00000306065, ENST00000586463, ENST00000586693, ENST00000587352, ENST00000587667, ENST00000588700, ENST00000590519, ENST00000591100, ENST00000593232
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.

Markers in Region
D19S661E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,087,952 - 33,088,109UniSTSGRCh37
Build 361937,779,792 - 37,779,949RGDNCBI36
Celera1929,781,601 - 29,781,757RGD
Cytogenetic Map19q13.11UniSTS
HuRef1929,590,991 - 29,591,148UniSTS
D19S607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,152,068 - 33,152,268UniSTSGRCh37
Build 361937,843,908 - 37,844,108RGDNCBI36
Celera1929,845,701 - 29,845,899RGD
Cytogenetic Map19q13.11UniSTS
HuRef1929,655,106 - 29,655,302UniSTS


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 1985 1357 855 154 1061 59 3522 1298 1534 218 1359 1517 112 766 2231 6
Low 454 1631 871 470 889 406 835 897 2200 201 101 96 63 1 438 557 2
Below cutoff 3 1 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000306065   ⟹   ENSP00000304292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,597,006 - 32,675,180 (-)Ensembl
RefSeq Acc Id: ENST00000586463   ⟹   ENSP00000467447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,643,123 - 32,675,187 (-)Ensembl
RefSeq Acc Id: ENST00000586693   ⟹   ENSP00000476897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,644,397 - 32,675,147 (-)Ensembl
RefSeq Acc Id: ENST00000587352   ⟹   ENSP00000466138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,637,300 - 32,675,169 (-)Ensembl
RefSeq Acc Id: ENST00000587667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,598,328 - 32,600,286 (-)Ensembl
RefSeq Acc Id: ENST00000588700   ⟹   ENSP00000466905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,643,127 - 32,675,192 (-)Ensembl
RefSeq Acc Id: ENST00000590519   ⟹   ENSP00000464819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,646,604 - 32,676,597 (-)Ensembl
RefSeq Acc Id: ENST00000591100   ⟹   ENSP00000464751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,626,807 - 32,643,300 (-)Ensembl
RefSeq Acc Id: ENST00000593232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1932,643,063 - 32,643,785 (-)Ensembl
RefSeq Acc Id: NM_032139   ⟹   NP_115515
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381932,597,006 - 32,675,180 (-)NCBI
GRCh371933,087,907 - 33,166,102 (-)RGD
Build 361937,779,747 - 37,857,942 (-)NCBI Archive
Celera1929,781,556 - 29,859,734 (-)RGD
HuRef1929,590,946 - 29,669,349 (-)RGD
CHM1_11933,088,999 - 33,167,383 (-)NCBI
T2T-CHM13v2.01935,115,771 - 35,193,912 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_115515   ⟸   NM_032139
- UniProtKB: Q8ND80 (UniProtKB/Swiss-Prot),   Q86UC3 (UniProtKB/Swiss-Prot),   Q71MF5 (UniProtKB/Swiss-Prot),   Q9H0I4 (UniProtKB/Swiss-Prot),   Q96NW4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000304292   ⟸   ENST00000306065
RefSeq Acc Id: ENSP00000476897   ⟸   ENST00000586693
RefSeq Acc Id: ENSP00000467447   ⟸   ENST00000586463
RefSeq Acc Id: ENSP00000466138   ⟸   ENST00000587352
RefSeq Acc Id: ENSP00000466905   ⟸   ENST00000588700
RefSeq Acc Id: ENSP00000464819   ⟸   ENST00000590519
RefSeq Acc Id: ENSP00000464751   ⟸   ENST00000591100
Protein Domains
VPS9

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96NW4-F1-model_v2 AlphaFold Q96NW4 1-1050 view protein structure

Promoters
RGD ID:7239393
Promoter ID:EPDNEW_H25442
Type:initiation region
Name:ANKRD27_1
Description:ankyrin repeat domain 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381932,675,169 - 32,675,229EPDNEW
RGD ID:6795136
Promoter ID:HG_KWN:29530
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379314,   NM_032139,   UC002NTO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361937,857,876 - 37,858,852 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25310 AgrOrtholog
COSMIC ANKRD27 COSMIC
Ensembl Genes ENSG00000105186 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306065 ENTREZGENE
  ENST00000306065.9 UniProtKB/Swiss-Prot
  ENST00000586463.5 UniProtKB/TrEMBL
  ENST00000586693.7 UniProtKB/TrEMBL
  ENST00000587352.5 UniProtKB/TrEMBL
  ENST00000588700.5 UniProtKB/TrEMBL
  ENST00000590519.2 UniProtKB/TrEMBL
  ENST00000591100.6 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1050.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105186 GTEx
HGNC ID HGNC:25310 ENTREZGENE
Human Proteome Map ANKRD27 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS9_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84079 UniProtKB/Swiss-Prot
NCBI Gene 84079 ENTREZGENE
OMIM 618957 OMIM
PANTHER ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 27 UniProtKB/Swiss-Prot
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 27 UniProtKB/Swiss-Prot
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 27 UniProtKB/TrEMBL
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 27 UniProtKB/TrEMBL
Pfam Ank UniProtKB/Swiss-Prot
  Ank_2 UniProtKB/Swiss-Prot
  VPS9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134893411 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot
  VPS9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF109993 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot
UniProt ANR27_HUMAN UniProtKB/Swiss-Prot
  K7EIH4_HUMAN UniProtKB/TrEMBL
  K7EIN0_HUMAN UniProtKB/TrEMBL
  K7ELM1_HUMAN UniProtKB/TrEMBL
  K7ENE0_HUMAN UniProtKB/TrEMBL
  K7EPM2_HUMAN UniProtKB/TrEMBL
  Q71MF5 ENTREZGENE
  Q86UC3 ENTREZGENE
  Q8ND80 ENTREZGENE
  Q96NW4 ENTREZGENE
  Q9H0I4 ENTREZGENE
  V9GYL8_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q71MF5 UniProtKB/Swiss-Prot
  Q86UC3 UniProtKB/Swiss-Prot
  Q8ND80 UniProtKB/Swiss-Prot
  Q9H0I4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ANKRD27  ankyrin repeat domain 27    ankyrin repeat domain 27 (VPS9 domain)  Symbol and/or name change 5135510 APPROVED