ASTN1 (astrotactin 1) - Rat Genome Database

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Gene: ASTN1 (astrotactin 1) Homo sapiens
Analyze
Symbol: ASTN1
Name: astrotactin 1
RGD ID: 1602904
HGNC Page HGNC:773
Description: Predicted to be involved in neuron cell-cell adhesion and neuron migration. Predicted to act upstream of or within cell migration; cell-cell adhesion; and locomotory behavior. Predicted to be located in clathrin-coated vesicle; external side of plasma membrane; and perikaryon. Predicted to be active in endosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ASTN; astrotactin-1; KIAA1747
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
GRCh381176,857,321 - 177,164,712 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1176,857,302 - 177,164,973 (-)EnsemblGRCh38hg38GRCh38
GRCh371176,826,457 - 177,133,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361175,096,826 - 175,400,647 (-)NCBINCBI36Build 36hg18NCBI36
Celera1149,940,230 - 150,244,095 (-)NCBICelera
Cytogenetic Map1q25.2NCBI
HuRef1148,056,525 - 148,361,033 (-)NCBIHuRef
CHM1_11178,254,310 - 178,558,015 (-)NCBICHM1_1
T2T-CHM13v2.01176,211,993 - 176,519,385 (-)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
Additional References at PubMed
PMID:3276720   PMID:8889548   PMID:9070947   PMID:9179496   PMID:12477932   PMID:16344560   PMID:16710414   PMID:18384059   PMID:18519826   PMID:19086053   PMID:20379614   PMID:21873635  
PMID:22488871   PMID:29568061   PMID:30021884   PMID:31169361   PMID:32945491   PMID:35906200   PMID:35914814  


Genomics

Comparative Map Data
ASTN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381176,857,321 - 177,164,712 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1176,857,302 - 177,164,973 (-)EnsemblGRCh38hg38GRCh38
GRCh371176,826,457 - 177,133,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361175,096,826 - 175,400,647 (-)NCBINCBI36Build 36hg18NCBI36
Celera1149,940,230 - 150,244,095 (-)NCBICelera
Cytogenetic Map1q25.2NCBI
HuRef1148,056,525 - 148,361,033 (-)NCBIHuRef
CHM1_11178,254,310 - 178,558,015 (-)NCBICHM1_1
T2T-CHM13v2.01176,211,993 - 176,519,385 (-)NCBIT2T-CHM13v2.0
Astn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391158,189,647 - 158,519,351 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1158,189,843 - 158,519,351 (+)EnsemblGRCm39 Ensembl
GRCm381158,362,102 - 158,691,786 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1158,362,273 - 158,691,781 (+)EnsemblGRCm38mm10GRCm38
MGSCv371160,292,471 - 160,621,917 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361160,199,033 - 160,528,463 (+)NCBIMGSCv36mm8
Celera1160,755,390 - 161,087,245 (+)NCBICelera
Cytogenetic Map1H1NCBI
cM Map168.35NCBI
Astn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81373,070,754 - 73,388,902 (+)NCBIGRCr8
mRatBN7.21370,537,423 - 70,855,440 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1370,537,703 - 70,855,440 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1373,116,582 - 73,431,730 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01374,414,387 - 74,732,605 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01371,674,339 - 71,991,950 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01376,054,965 - 76,370,674 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1376,055,410 - 76,370,674 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01380,970,094 - 81,285,187 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41373,650,722 - 73,964,585 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11373,898,509 - 73,946,760 (+)NCBI
Celera1370,353,119 - 70,668,934 (+)NCBICelera
Cytogenetic Map13q22NCBI
Astn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540616,445,495 - 16,742,295 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540616,445,738 - 16,742,185 (-)NCBIChiLan1.0ChiLan1.0
ASTN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2172,554,318 - 72,858,097 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1172,224,518 - 72,528,310 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01152,385,103 - 152,688,885 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11156,082,184 - 156,385,728 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1156,085,398 - 156,284,771 (-)Ensemblpanpan1.1panPan2
ASTN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1722,455,117 - 22,752,044 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl722,455,499 - 22,757,029 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha721,979,662 - 22,275,982 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0722,201,861 - 22,498,424 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl722,193,342 - 22,504,025 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1722,107,492 - 22,404,097 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0722,207,414 - 22,504,112 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0722,350,297 - 22,647,240 (+)NCBIUU_Cfam_GSD_1.0
Astn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934493,614,273 - 93,896,633 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648111,461,009 - 11,743,386 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648111,461,091 - 11,743,376 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASTN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9118,646,910 - 118,968,970 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19118,649,144 - 118,969,032 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29130,343,820 - 130,424,020 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASTN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12552,110,983 - 52,416,743 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2552,110,880 - 52,413,554 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605553,681,740 - 53,987,943 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Astn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247715,027,442 - 5,315,460 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247715,027,422 - 5,384,023 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASTN1
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1		 pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2		 pathogenic
NM_004319.2(ASTN1):c.3722T>A (p.Ile1241Lys) single nucleotide variant Malignant melanoma [RCV000059997] Chr1:176864447 [GRCh38]
Chr1:176833583 [GRCh37]
Chr1:175100206 [NCBI36]
Chr1:1q25.2		 not provided
NM_004319.2(ASTN1):c.1512G>A (p.Gly504=) single nucleotide variant Malignant melanoma [RCV000059998] Chr1:177014802 [GRCh38]
Chr1:176983938 [GRCh37]
Chr1:175250561 [NCBI36]
Chr1:1q25.2		 not provided
NM_004319.2(ASTN1):c.613C>T (p.Pro205Ser) single nucleotide variant Malignant melanoma [RCV000059999] Chr1:177032708 [GRCh38]
Chr1:177001844 [GRCh37]
Chr1:175268467 [NCBI36]
Chr1:1q25.2		 not provided
NM_004319.2(ASTN1):c.471G>A (p.Met157Ile) single nucleotide variant Malignant melanoma [RCV000060000] Chr1:177061078 [GRCh38]
Chr1:177030214 [GRCh37]
Chr1:175296837 [NCBI36]
Chr1:1q25.2		 not provided
NM_004319.2(ASTN1):c.2638C>T (p.Arg880Ter) single nucleotide variant Malignant melanoma [RCV000064339] Chr1:176934185 [GRCh38]
Chr1:176903321 [GRCh37]
Chr1:175169944 [NCBI36]
Chr1:1q25.2		 not provided
NM_004319.2(ASTN1):c.2086G>A (p.Gly696Arg) single nucleotide variant Malignant melanoma [RCV000064340] Chr1:176946089 [GRCh38]
Chr1:176915225 [GRCh37]
Chr1:175181848 [NCBI36]
Chr1:1q25.2		 not provided
NM_004319.2(ASTN1):c.1272G>A (p.Gly424=) single nucleotide variant Malignant melanoma [RCV000064341] Chr1:177023570 [GRCh38]
Chr1:176992706 [GRCh37]
Chr1:175259329 [NCBI36]
Chr1:1q25.2		 not provided
NM_004319.2(ASTN1):c.1066G>A (p.Asp356Asn) single nucleotide variant Malignant melanoma [RCV000064342] Chr1:177029688 [GRCh38]
Chr1:176998824 [GRCh37]
Chr1:175265447 [NCBI36]
Chr1:1q25.2		 not provided
NM_001286164.1(ASTN1):c.3648-3788G>T single nucleotide variant Lung cancer [RCV000090021] Chr1:176861438 [GRCh38]
Chr1:176830574 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_001286164.1(ASTN1):c.3647+5182T>A single nucleotide variant Lung cancer [RCV000090022] Chr1:176863662 [GRCh38]
Chr1:176832798 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_001286164.1(ASTN1):c.2671+14047C>G single nucleotide variant Lung cancer [RCV000090023] Chr1:176920105 [GRCh38]
Chr1:176889241 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_001286164.1(ASTN1):c.472-5480A>G single nucleotide variant Lung cancer [RCV000090024] Chr1:177038329 [GRCh38]
Chr1:177007465 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_001286164.1(ASTN1):c.283+42177G>A single nucleotide variant Lung cancer [RCV000090025] Chr1:177122217 [GRCh38]
Chr1:177091353 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_001286164.1(ASTN1):c.283+30040G>T single nucleotide variant Lung cancer [RCV000090026] Chr1:177134354 [GRCh38]
Chr1:177103490 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3		 pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1		 pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2		 pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2		 pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1 copy number loss See cases [RCV000239775] Chr1:172742952..181814496 [GRCh37]
Chr1:1q24.3-25.3		 pathogenic
NM_004319.3(ASTN1):c.2224G>C (p.Gly742Arg) single nucleotide variant Abnormal brain morphology [RCV000454328] Chr1:176945951 [GRCh38]
Chr1:176915087 [GRCh37]
Chr1:1q25.2		 likely pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3		 pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 copy number loss See cases [RCV000447593] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_004319.3(ASTN1):c.3515A>T (p.Glu1172Val) single nucleotide variant not provided [RCV000509256] Chr1:176868976 [GRCh38]
Chr1:176838112 [GRCh37]
Chr1:1q25.2		 not provided
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
NM_004319.3(ASTN1):c.2302G>A (p.Val768Met) single nucleotide variant Inborn genetic diseases [RCV003275364] Chr1:176943966 [GRCh38]
Chr1:176913102 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.3089C>T (p.Thr1030Met) single nucleotide variant Inborn genetic diseases [RCV003288873]|not provided [RCV003420654] Chr1:176884476 [GRCh38]
Chr1:176853612 [GRCh37]
Chr1:1q25.2		 likely benign|uncertain significance
NM_004319.3(ASTN1):c.79G>A (p.Val27Met) single nucleotide variant Inborn genetic diseases [RCV003259641] Chr1:177164598 [GRCh38]
Chr1:177133734 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.3283A>C (p.Met1095Leu) single nucleotide variant Abnormal corpus callosum morphology [RCV000656102]|not provided [RCV003419874] Chr1:176882938 [GRCh38]
Chr1:176852074 [GRCh37]
Chr1:1q25.2		 likely benign|uncertain significance
NM_004319.3(ASTN1):c.2770C>T (p.His924Tyr) single nucleotide variant Abnormal corpus callosum morphology [RCV000656103] Chr1:176894732 [GRCh38]
Chr1:176863868 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.277G>T (p.Val93Leu) single nucleotide variant Inborn genetic diseases [RCV003281463] Chr1:177164400 [GRCh38]
Chr1:177133536 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2701C>T (p.Arg901Trp) single nucleotide variant Inborn genetic diseases [RCV003239590] Chr1:176894801 [GRCh38]
Chr1:176863937 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3		 likely pathogenic
GRCh37/hg19 1q25.2(chr1:177044080-177295587)x3 copy number gain not provided [RCV000684674] Chr1:177044080..177295587 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.2(chr1:177046326-177275885)x3 copy number gain not provided [RCV000684675] Chr1:177046326..177275885 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1		 pathogenic
GRCh37/hg19 1q25.2(chr1:176983927-176993868)x0 copy number loss not provided [RCV000994337] Chr1:176983927..176993868 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.2(chr1:176782672-176887800)x1 copy number loss not provided [RCV001005156] Chr1:176782672..176887800 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1527A>G (p.Pro509=) single nucleotide variant not provided [RCV000893121] Chr1:176965234 [GRCh38]
Chr1:176934370 [GRCh37]
Chr1:1q25.2		 likely benign
GRCh37/hg19 1q25.2(chr1:176913693-177762061)x1 copy number loss not provided [RCV000849157] Chr1:176913693..177762061 [GRCh37]
Chr1:1q25.2		 uncertain significance
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3		 pathogenic
NM_004319.3(ASTN1):c.3179G>A (p.Arg1060His) single nucleotide variant Inborn genetic diseases [RCV003247238] Chr1:176884386 [GRCh38]
Chr1:176853522 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1210G>A (p.Val404Ile) single nucleotide variant Inborn genetic diseases [RCV003249040] Chr1:177024643 [GRCh38]
Chr1:176993779 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.1-25.2(chr1:174974791-177024710)x1 copy number loss not provided [RCV001005154] Chr1:174974791..177024710 [GRCh37]
Chr1:1q25.1-25.2		 uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not provided [RCV001258487] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3		 pathogenic
GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1 copy number loss not provided [RCV001258486] Chr1:174410914..178743636 [GRCh37]
Chr1:1q25.1-25.2		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) copy number loss not specified [RCV002053713] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
GRCh37/hg19 1q25.2(chr1:176821896-176964175)x3 copy number gain not provided [RCV001829220] Chr1:176821896..176964175 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
NM_004319.3(ASTN1):c.145C>A (p.Arg49Ser) single nucleotide variant Inborn genetic diseases [RCV003242380] Chr1:177164532 [GRCh38]
Chr1:177133668 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.13G>C (p.Gly5Arg) single nucleotide variant Inborn genetic diseases [RCV003255196] Chr1:177164664 [GRCh38]
Chr1:177133800 [GRCh37]
Chr1:1q25.2		 likely benign
NM_004319.3(ASTN1):c.3214A>C (p.Lys1072Gln) single nucleotide variant Inborn genetic diseases [RCV003304750] Chr1:176884351 [GRCh38]
Chr1:176853487 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.701G>A (p.Arg234Gln) single nucleotide variant Inborn genetic diseases [RCV003262938] Chr1:177032620 [GRCh38]
Chr1:177001756 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.2(chr1:176821896-176964273)x3 copy number gain not provided [RCV002473871] Chr1:176821896..176964273 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1432G>A (p.Glu478Lys) single nucleotide variant Inborn genetic diseases [RCV002752914] Chr1:177023410 [GRCh38]
Chr1:176992546 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.77A>C (p.Asp26Ala) single nucleotide variant Inborn genetic diseases [RCV002683684] Chr1:177164600 [GRCh38]
Chr1:177133736 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.64A>C (p.Thr22Pro) single nucleotide variant Inborn genetic diseases [RCV002683035] Chr1:177164613 [GRCh38]
Chr1:177133749 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.3731G>A (p.Arg1244Gln) single nucleotide variant Inborn genetic diseases [RCV002902538] Chr1:176864438 [GRCh38]
Chr1:176833574 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1058C>T (p.Ala353Val) single nucleotide variant Inborn genetic diseases [RCV002902613] Chr1:177029696 [GRCh38]
Chr1:176998832 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1684T>C (p.Ser562Pro) single nucleotide variant Inborn genetic diseases [RCV002860117] Chr1:176958397 [GRCh38]
Chr1:176927533 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2144G>C (p.Ser715Thr) single nucleotide variant Inborn genetic diseases [RCV002973718] Chr1:176946031 [GRCh38]
Chr1:176915167 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1069C>A (p.Pro357Thr) single nucleotide variant Inborn genetic diseases [RCV003012657] Chr1:177029685 [GRCh38]
Chr1:176998821 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.806C>T (p.Thr269Met) single nucleotide variant Inborn genetic diseases [RCV002883897] Chr1:177032515 [GRCh38]
Chr1:177001651 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1777G>T (p.Val593Phe) single nucleotide variant Inborn genetic diseases [RCV002817609] Chr1:176957788 [GRCh38]
Chr1:176926924 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.868A>G (p.Ser290Gly) single nucleotide variant Inborn genetic diseases [RCV002992821] Chr1:177030950 [GRCh38]
Chr1:177000086 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1255C>A (p.His419Asn) single nucleotide variant Inborn genetic diseases [RCV002688665] Chr1:177024598 [GRCh38]
Chr1:176993734 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1847G>A (p.Arg616His) single nucleotide variant Inborn genetic diseases [RCV002981750] Chr1:176957718 [GRCh38]
Chr1:176926854 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1910T>C (p.Met637Thr) single nucleotide variant Inborn genetic diseases [RCV002884699] Chr1:176949329 [GRCh38]
Chr1:176918465 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1040G>A (p.Gly347Glu) single nucleotide variant Inborn genetic diseases [RCV002704040] Chr1:177029714 [GRCh38]
Chr1:176998850 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2639G>A (p.Arg880Gln) single nucleotide variant Inborn genetic diseases [RCV002757606] Chr1:176934184 [GRCh38]
Chr1:176903320 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.56T>G (p.Val19Gly) single nucleotide variant Inborn genetic diseases [RCV002712547] Chr1:177164621 [GRCh38]
Chr1:177133757 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.3073G>C (p.Val1025Leu) single nucleotide variant Inborn genetic diseases [RCV002830904] Chr1:176888072 [GRCh38]
Chr1:176857208 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2434C>T (p.Arg812Trp) single nucleotide variant Inborn genetic diseases [RCV002698414] Chr1:176936314 [GRCh38]
Chr1:176905450 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1269T>G (p.Asp423Glu) single nucleotide variant Inborn genetic diseases [RCV002803866] Chr1:177024584 [GRCh38]
Chr1:176993720 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1885G>A (p.Val629Met) single nucleotide variant Inborn genetic diseases [RCV002957023] Chr1:176957680 [GRCh38]
Chr1:176926816 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.989A>G (p.Lys330Arg) single nucleotide variant Inborn genetic diseases [RCV002712812] Chr1:177030829 [GRCh38]
Chr1:176999965 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2539G>A (p.Ala847Thr) single nucleotide variant Inborn genetic diseases [RCV003004635] Chr1:176934284 [GRCh38]
Chr1:176903420 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2824T>A (p.Ser942Thr) single nucleotide variant Inborn genetic diseases [RCV002961087] Chr1:176894678 [GRCh38]
Chr1:176863814 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.3415G>A (p.Val1139Met) single nucleotide variant Inborn genetic diseases [RCV002832278] Chr1:176876585 [GRCh38]
Chr1:176845721 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.3412G>A (p.Asp1138Asn) single nucleotide variant Inborn genetic diseases [RCV002792227] Chr1:176876588 [GRCh38]
Chr1:176845724 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2885A>T (p.Glu962Val) single nucleotide variant Inborn genetic diseases [RCV002960126] Chr1:176894617 [GRCh38]
Chr1:176863753 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.46C>G (p.Pro16Ala) single nucleotide variant Inborn genetic diseases [RCV002792792] Chr1:177164631 [GRCh38]
Chr1:177133767 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1937G>A (p.Arg646His) single nucleotide variant Inborn genetic diseases [RCV002748468] Chr1:176949302 [GRCh38]
Chr1:176918438 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1145A>G (p.Asn382Ser) single nucleotide variant Inborn genetic diseases [RCV003277935] Chr1:177024708 [GRCh38]
Chr1:176993844 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2084A>G (p.Asp695Gly) single nucleotide variant Inborn genetic diseases [RCV003214306] Chr1:176946091 [GRCh38]
Chr1:176915227 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2389T>C (p.Phe797Leu) single nucleotide variant Inborn genetic diseases [RCV003211695] Chr1:176936359 [GRCh38]
Chr1:176905495 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2104A>G (p.Ile702Val) single nucleotide variant Inborn genetic diseases [RCV003189593] Chr1:176946071 [GRCh38]
Chr1:176915207 [GRCh37]
Chr1:1q25.2		 likely benign
NM_004319.3(ASTN1):c.619G>A (p.Val207Met) single nucleotide variant Inborn genetic diseases [RCV003204312] Chr1:177032702 [GRCh38]
Chr1:177001838 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1799C>T (p.Pro600Leu) single nucleotide variant Inborn genetic diseases [RCV003209504] Chr1:176957766 [GRCh38]
Chr1:176926902 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1624A>G (p.Met542Val) single nucleotide variant Inborn genetic diseases [RCV003207471] Chr1:176958457 [GRCh38]
Chr1:176927593 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1798C>T (p.Pro600Ser) single nucleotide variant Inborn genetic diseases [RCV003260315] Chr1:176957767 [GRCh38]
Chr1:176926903 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1751C>T (p.Thr584Ile) single nucleotide variant Inborn genetic diseases [RCV003211877] Chr1:176957814 [GRCh38]
Chr1:176926950 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.2863C>G (p.Pro955Ala) single nucleotide variant Inborn genetic diseases [RCV003196810] Chr1:176894639 [GRCh38]
Chr1:176863775 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.1154C>T (p.Thr385Ile) single nucleotide variant Inborn genetic diseases [RCV003308845] Chr1:177024699 [GRCh38]
Chr1:176993835 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.3825G>A (p.Thr1275=) single nucleotide variant not provided [RCV003421228] Chr1:176864344 [GRCh38]
Chr1:176833480 [GRCh37]
Chr1:1q25.2		 likely benign
NM_004319.3(ASTN1):c.1420C>G (p.Gln474Glu) single nucleotide variant Inborn genetic diseases [RCV003369295] Chr1:177023422 [GRCh38]
Chr1:176992558 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_004319.3(ASTN1):c.3878A>G (p.Glu1293Gly) single nucleotide variant ASTN1-related condition [RCV003929010]|not provided [RCV003421227] Chr1:176864291 [GRCh38]
Chr1:176833427 [GRCh37]
Chr1:1q25.2		 likely benign
NM_004319.3(ASTN1):c.2671+6T>C single nucleotide variant not provided [RCV003421229] Chr1:176934146 [GRCh38]
Chr1:176903282 [GRCh37]
Chr1:1q25.2		 likely benign
NM_004319.3(ASTN1):c.54G>C (p.Ala18=) single nucleotide variant not provided [RCV003421231] Chr1:177164623 [GRCh38]
Chr1:177133759 [GRCh37]
Chr1:1q25.2		 likely benign
NM_004319.3(ASTN1):c.66G>C (p.Thr22=) single nucleotide variant not provided [RCV003421230] Chr1:177164611 [GRCh38]
Chr1:177133747 [GRCh37]
Chr1:1q25.2		 likely benign
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not specified [RCV003986506] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3		 pathogenic
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1		 pathogenic
NM_004319.3(ASTN1):c.1329T>C (p.Pro443=) single nucleotide variant not provided [RCV003887043] Chr1:177023513 [GRCh38]
Chr1:176992649 [GRCh37]
Chr1:1q25.2		 likely benign
NM_004319.3(ASTN1):c.3734G>A (p.Arg1245His) single nucleotide variant ASTN1-related condition [RCV003981503] Chr1:176864435 [GRCh38]
Chr1:176833571 [GRCh37]
Chr1:1q25.2		 likely benign
NM_004319.3(ASTN1):c.3769G>A (p.Glu1257Lys) single nucleotide variant Inborn genetic diseases [RCV003359879] Chr1:176864400 [GRCh38]
Chr1:176833536 [GRCh37]
Chr1:1q25.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3708
Count of miRNA genes:1089
Interacting mature miRNAs:1344
Transcripts:ENST00000281881, ENST00000361833, ENST00000367654, ENST00000367657, ENST00000424564, ENST00000473640
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH64619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,831,677 - 176,831,808UniSTSGRCh37
Build 361175,098,300 - 175,098,431RGDNCBI36
Celera1149,941,704 - 149,941,835RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,057,999 - 148,058,130UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
NCBI RH Map11540.9UniSTS
RH35833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,900,691 - 176,900,856UniSTSGRCh37
Build 361175,167,314 - 175,167,479RGDNCBI36
Celera1150,010,720 - 150,010,885RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,127,031 - 148,127,196UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
NCBI RH Map11540.9UniSTS
D1S3037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,830,313 - 176,830,520UniSTSGRCh37
Build 361175,096,936 - 175,097,143RGDNCBI36
Celera1149,940,340 - 149,940,547RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,056,635 - 148,056,842UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
Whitehead-RH Map1783.8UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11506.7UniSTS
AL034178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,872,149 - 176,872,268UniSTSGRCh37
Build 361175,138,772 - 175,138,891RGDNCBI36
Celera1149,982,177 - 149,982,296RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,098,470 - 148,098,589UniSTS
AL034201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,040,730 - 177,040,853UniSTSGRCh37
Build 361175,307,353 - 175,307,476RGDNCBI36
Celera1150,150,742 - 150,150,865RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,267,349 - 148,267,472UniSTS
SHGC-77798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,080,012 - 177,080,297UniSTSGRCh37
Build 361175,346,635 - 175,346,920RGDNCBI36
Celera1150,190,025 - 150,190,310RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,306,632 - 148,306,917UniSTS
TNG Radiation Hybrid Map182544.0UniSTS
SHGC-78044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,932,475 - 176,932,766UniSTSGRCh37
Build 361175,199,098 - 175,199,389RGDNCBI36
Celera1150,042,502 - 150,042,793RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,159,008 - 148,159,299UniSTS
SHGC-86317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,947,638 - 176,947,936UniSTSGRCh37
Build 361175,214,261 - 175,214,559RGDNCBI36
Celera1150,057,669 - 150,057,967RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,174,173 - 148,174,471UniSTS
RH119977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,052,450 - 177,052,799UniSTSGRCh37
Build 361175,319,073 - 175,319,422RGDNCBI36
Celera1150,162,463 - 150,162,812RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,279,070 - 148,279,419UniSTS
TNG Radiation Hybrid Map182537.0UniSTS
RH120945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,835,292 - 176,835,566UniSTSGRCh37
Build 361175,101,915 - 175,102,189RGDNCBI36
Celera1149,945,319 - 149,945,593RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,061,614 - 148,061,888UniSTS
TNG Radiation Hybrid Map182397.0UniSTS
RH123083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,102,098 - 177,102,406UniSTSGRCh37
Build 361175,368,721 - 175,369,029RGDNCBI36
Celera1150,212,115 - 150,212,423RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,328,726 - 148,329,034UniSTS
TNG Radiation Hybrid Map182551.0UniSTS
RH118982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,889,563 - 176,889,910UniSTSGRCh37
Build 361175,156,186 - 175,156,533RGDNCBI36
Celera1149,999,593 - 149,999,940RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,115,888 - 148,116,235UniSTS
D1S1946E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,831,564 - 176,831,670UniSTSGRCh37
Build 361175,098,187 - 175,098,293RGDNCBI36
Celera1149,941,591 - 149,941,697RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,057,886 - 148,057,992UniSTS
SHGC-143461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,957,521 - 176,957,818UniSTSGRCh37
Build 361175,224,144 - 175,224,441RGDNCBI36
Celera1150,067,552 - 150,067,849RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,184,056 - 148,184,353UniSTS
TNG Radiation Hybrid Map182488.0UniSTS
G16290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,891,631 - 176,891,739UniSTSGRCh37
Build 361175,158,254 - 175,158,362RGDNCBI36
Celera1150,001,661 - 150,001,769RGD
Cytogenetic Map1q25.2UniSTS
SHGC-75953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,826,479 - 176,826,587UniSTSGRCh37
Build 361175,093,102 - 175,093,210RGDNCBI36
Celera1149,936,506 - 149,936,614RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,052,801 - 148,052,909UniSTS
TNG Radiation Hybrid Map182397.0UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
Whitehead-RH Map1782.4UniSTS
NCBI RH Map11545.4UniSTS
ASTN_4385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,830,097 - 176,830,966UniSTSGRCh37
Build 361175,096,720 - 175,097,589RGDNCBI36
Celera1149,940,124 - 149,940,993RGD
HuRef1148,056,419 - 148,057,288UniSTS
SHGC-75943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,900,699 - 176,900,823UniSTSGRCh37
Build 361175,167,322 - 175,167,446RGDNCBI36
Celera1150,010,728 - 150,010,852RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,127,039 - 148,127,163UniSTS
TNG Radiation Hybrid Map182442.0UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
NCBI RH Map11553.1UniSTS
SHGC-32996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,868,657 - 176,868,806UniSTSGRCh37
Build 361175,135,280 - 175,135,429RGDNCBI36
Celera1149,978,684 - 149,978,833RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,094,978 - 148,095,127UniSTS
TNG Radiation Hybrid Map182423.0UniSTS
GeneMap99-GB4 RH Map1625.85UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
Whitehead-RH Map1770.4UniSTS
G19776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,830,334 - 176,830,464UniSTSGRCh37
Build 361175,096,957 - 175,097,087RGDNCBI36
Celera1149,940,361 - 149,940,491RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,056,656 - 148,056,786UniSTS
A001Y13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,830,334 - 176,830,464UniSTSGRCh37
Build 361175,096,957 - 175,097,087RGDNCBI36
Celera1149,940,361 - 149,940,491RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,056,656 - 148,056,786UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
AL009305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,023,737 - 177,023,863UniSTSGRCh37
Build 361175,290,360 - 175,290,486RGDNCBI36
Celera1150,133,742 - 150,133,868RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,250,349 - 148,250,475UniSTS
SHGC-30553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,837,973 - 176,838,097UniSTSGRCh37
Build 361175,104,596 - 175,104,720RGDNCBI36
Celera1149,948,000 - 149,948,124RGD
Cytogenetic Map1q25.2UniSTS
HuRef1148,064,295 - 148,064,419UniSTS
TNG Radiation Hybrid Map182397.0UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
Whitehead-RH Map1783.8UniSTS
NCBI RH Map11506.7UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 4 2 421 1 5 1 8 6 2355 11 56 9
Low 1390 124 155 70 338 13 327 825 723 27 910 186 59 357 107 1
Below cutoff 874 2452 1008 454 650 350 3737 1266 616 197 386 1215 106 800 2533 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC049377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF507471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM722747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU620695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,936,054 - 177,164,973 (-)Ensembl
RefSeq Acc Id: ENST00000361833   ⟹   ENSP00000354536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,861,067 - 177,164,712 (-)Ensembl
RefSeq Acc Id: ENST00000367657   ⟹   ENSP00000356629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,857,302 - 177,164,867 (-)Ensembl
RefSeq Acc Id: ENST00000424564   ⟹   ENSP00000395041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,868,813 - 177,164,683 (-)Ensembl
RefSeq Acc Id: ENST00000473640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,976,053 - 177,032,550 (-)Ensembl
RefSeq Acc Id: NM_001286164   ⟹   NP_001273093
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,857,321 - 177,164,712 (-)NCBI
HuRef1148,052,763 - 148,361,049 (-)NCBI
CHM1_11178,250,548 - 178,558,031 (-)NCBI
T2T-CHM13v2.01176,211,993 - 176,519,385 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364856   ⟹   NP_001351785
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,861,067 - 177,164,712 (-)NCBI
T2T-CHM13v2.01176,215,739 - 176,519,385 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004319   ⟹   NP_004310
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,861,067 - 177,164,712 (-)NCBI
GRCh371176,826,441 - 177,134,024 (-)NCBI
Build 361175,096,826 - 175,400,647 (-)NCBI Archive
Celera1149,940,230 - 150,244,095 (-)RGD
HuRef1148,052,763 - 148,361,049 (-)NCBI
CHM1_11178,254,307 - 178,558,031 (-)NCBI
T2T-CHM13v2.01176,215,739 - 176,519,385 (-)NCBI
Sequence:
RefSeq Acc Id: NM_207108   ⟹   NP_996991
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,868,813 - 177,164,712 (-)NCBI
GRCh371176,826,441 - 177,134,024 (-)NCBI
Build 361175,104,577 - 175,400,647 (-)NCBI Archive
Celera1149,940,230 - 150,244,095 (-)RGD
HuRef1148,052,763 - 148,361,049 (-)NCBI
CHM1_11178,262,057 - 178,558,031 (-)NCBI
T2T-CHM13v2.01176,223,485 - 176,519,385 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001341   ⟹   XP_016856830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,857,321 - 177,164,712 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054336732   ⟹   XP_054192707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01176,211,993 - 176,519,385 (-)NCBI
RefSeq Acc Id: XR_001737193
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,894,788 - 177,164,712 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008486049
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01176,249,458 - 176,519,385 (-)NCBI
RefSeq Acc Id: XR_008486050
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01176,266,189 - 176,519,385 (-)NCBI
RefSeq Acc Id: XR_921796
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,911,798 - 177,164,712 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_004310   ⟸   NM_004319
- Peptide Label: isoform 1 precursor
- UniProtKB: A6H8Y4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996991   ⟸   NM_207108
- Peptide Label: isoform 2 precursor
- UniProtKB: A6H8Y4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273093   ⟸   NM_001286164
- Peptide Label: isoform 3 precursor
- UniProtKB: B1AJS1 (UniProtKB/TrEMBL),   A6H8Y4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856830   ⟸   XM_017001341
- Peptide Label: isoform X1
- UniProtKB: A6H8Y4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351785   ⟸   NM_001364856
- Peptide Label: isoform 4 precursor
- UniProtKB: Q5W0V7 (UniProtKB/Swiss-Prot),   O60799 (UniProtKB/Swiss-Prot),   O14525 (UniProtKB/Swiss-Prot),   E9PFR8 (UniProtKB/Swiss-Prot),   B4DHI9 (UniProtKB/Swiss-Prot),   A5PL12 (UniProtKB/Swiss-Prot),   Q5W0V8 (UniProtKB/Swiss-Prot),   A6H8Y4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000395041   ⟸   ENST00000424564
RefSeq Acc Id: ENSP00000354536   ⟸   ENST00000361833
RefSeq Acc Id: ENSP00000356629   ⟸   ENST00000367657
RefSeq Acc Id: XP_054192707   ⟸   XM_054336732
- Peptide Label: isoform X1
Protein Domains
EGF-like   Fibronectin type-III   MACPF

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14525-F1-model_v2 AlphaFold O14525 1-1302 view protein structure

Promoters
RGD ID:6858208
Promoter ID:EPDNEW_H2269
Type:initiation region
Name:ASTN1_4
Description:astrotactin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2270  EPDNEW_H2271  EPDNEW_H2272  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,032,582 - 177,032,642EPDNEW
RGD ID:6858210
Promoter ID:EPDNEW_H2270
Type:initiation region
Name:ASTN1_1
Description:astrotactin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2269  EPDNEW_H2271  EPDNEW_H2272  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,164,707 - 177,164,767EPDNEW
RGD ID:6858212
Promoter ID:EPDNEW_H2271
Type:initiation region
Name:ASTN1_2
Description:astrotactin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2269  EPDNEW_H2270  EPDNEW_H2272  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,164,904 - 177,164,964EPDNEW
RGD ID:6858214
Promoter ID:EPDNEW_H2272
Type:initiation region
Name:ASTN1_3
Description:astrotactin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2269  EPDNEW_H2270  EPDNEW_H2271  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,165,194 - 177,165,254EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:773 AgrOrtholog
COSMIC ASTN1 COSMIC
Ensembl Genes ENSG00000152092 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361833 ENTREZGENE
  ENST00000361833.7 UniProtKB/Swiss-Prot
  ENST00000367657 ENTREZGENE
  ENST00000367657.7 UniProtKB/TrEMBL
  ENST00000424564 ENTREZGENE
  ENST00000424564.2 UniProtKB/Swiss-Prot
Gene3D-CATH Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000152092 GTEx
HGNC ID HGNC:773 ENTREZGENE
Human Proteome Map ASTN1 Human Proteome Map
InterPro Annexin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASTN1_2_EGF_Fn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASTN_1_2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Astrotactin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:460 UniProtKB/Swiss-Prot
NCBI Gene 460 ENTREZGENE
OMIM 600904 OMIM
PANTHER ASTROTACTIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Annexin_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASTN1_2_EGF_Fn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASTN_1_2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162376961 PharmGKB
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5PL12 ENTREZGENE
  A6H8Y4 ENTREZGENE, UniProtKB/TrEMBL
  ASTN1_HUMAN UniProtKB/Swiss-Prot
  B1AJS1 ENTREZGENE, UniProtKB/TrEMBL
  B4DHI9 ENTREZGENE
  E9PFR8 ENTREZGENE
  O14525 ENTREZGENE
  O60799 ENTREZGENE
  Q5W0V7 ENTREZGENE
  Q5W0V8 ENTREZGENE
  Q96BL7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5PL12 UniProtKB/Swiss-Prot
  B4DHI9 UniProtKB/Swiss-Prot
  E9PFR8 UniProtKB/Swiss-Prot
  O60799 UniProtKB/Swiss-Prot
  Q5W0V7 UniProtKB/Swiss-Prot
  Q5W0V8 UniProtKB/Swiss-Prot