SNX8 (sorting nexin 8) - Rat Genome Database

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Gene: SNX8 (sorting nexin 8) Homo sapiens
Analyze
Symbol: SNX8
Name: sorting nexin 8
RGD ID: 1314037
HGNC Page HGNC:14972
Description: Enables identical protein binding activity and phosphatidylinositol binding activity. Involved in early endosome to Golgi transport and intracellular protein transport. Located in early endosome membrane and retromer complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp761E1721; Mvp1; sorting nexin-8
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
GRCh3872,251,770 - 2,354,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl72,251,770 - 2,354,318 (-)EnsemblGRCh38hg38GRCh38
GRCh3772,291,405 - 2,354,076 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,261,164 - 2,320,625 (-)NCBINCBI36Build 36hg18NCBI36
Build 3472,067,881 - 2,127,340NCBI
Celera72,264,329 - 2,323,538 (-)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef72,210,687 - 2,261,757 (-)NCBIHuRef
CHM1_172,291,011 - 2,353,690 (-)NCBICHM1_1
T2T-CHM13v2.072,365,186 - 2,467,922 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v272,340,080 - 2,402,509 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)
genetic disease  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:11485546   PMID:12461558   PMID:12477932   PMID:12690205   PMID:15342556   PMID:15489334   PMID:17474147   PMID:19782049   PMID:20889312   PMID:21873635   PMID:21973056   PMID:22658674  
PMID:22688191   PMID:22939629   PMID:23085988   PMID:23974872   PMID:24311514   PMID:25720964   PMID:26344197   PMID:28514442   PMID:28675297   PMID:29180417   PMID:29509190   PMID:30021884  
PMID:32296183   PMID:33110251   PMID:33961781   PMID:34231239   PMID:34524084   PMID:35271311   PMID:35337019   PMID:35509820   PMID:35748872   PMID:35944360   PMID:36168628   PMID:36215168  
PMID:36398662   PMID:38519472  


Genomics

Comparative Map Data
SNX8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3872,251,770 - 2,354,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl72,251,770 - 2,354,318 (-)EnsemblGRCh38hg38GRCh38
GRCh3772,291,405 - 2,354,076 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,261,164 - 2,320,625 (-)NCBINCBI36Build 36hg18NCBI36
Build 3472,067,881 - 2,127,340NCBI
Celera72,264,329 - 2,323,538 (-)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef72,210,687 - 2,261,757 (-)NCBIHuRef
CHM1_172,291,011 - 2,353,690 (-)NCBICHM1_1
T2T-CHM13v2.072,365,186 - 2,467,922 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v272,340,080 - 2,402,509 (-)NCBI
Snx8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395140,326,048 - 140,375,063 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5140,326,054 - 140,375,017 (-)EnsemblGRCm39 Ensembl
GRCm385140,340,293 - 140,389,308 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5140,340,299 - 140,389,262 (-)EnsemblGRCm38mm10GRCm38
MGSCv375140,816,257 - 140,865,201 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365140,592,777 - 140,641,724 (-)NCBIMGSCv36mm8
Celera5137,399,047 - 137,448,080 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map578.95NCBI
Snx8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81219,365,746 - 19,414,333 (+)NCBIGRCr8
mRatBN7.21214,251,829 - 14,300,435 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1214,251,859 - 14,300,432 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1215,059,571 - 15,108,276 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01215,683,069 - 15,731,774 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01214,709,779 - 14,758,481 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01216,340,917 - 16,389,500 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1216,340,922 - 16,389,497 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01218,334,035 - 18,382,251 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41214,724,880 - 14,773,455 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11214,754,835 - 14,802,186 (+)NCBI
Celera1216,011,254 - 16,059,221 (+)NCBICelera
Cytogenetic Map12q11NCBI
Snx8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554609,689,654 - 9,744,000 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554609,689,654 - 9,743,891 (-)NCBIChiLan1.0ChiLan1.0
SNX8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v267,217,810 - 7,276,131 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1755,541,722 - 55,600,833 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v072,521,267 - 2,579,535 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.172,626,023 - 2,718,401 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl72,626,023 - 2,677,043 (-)Ensemblpanpan1.1panPan2
SNX8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1614,832,130 - 14,874,134 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl614,831,827 - 14,871,669 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha616,294,446 - 16,336,412 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0614,958,484 - 15,000,514 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl614,958,488 - 15,000,510 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1614,761,756 - 14,803,772 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0614,688,739 - 14,730,691 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0614,976,164 - 15,018,382 (+)NCBIUU_Cfam_GSD_1.0
Snx8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344142,954,096 - 143,032,466 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493682318,248 - 62,936 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493682318,972 - 62,924 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNX8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl31,576,126 - 1,618,997 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.131,576,129 - 1,618,991 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SNX8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12819,278,821 - 19,345,751 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2819,278,880 - 19,348,437 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660902,398,302 - 2,454,397 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snx8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474027,541,271 - 27,596,188 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474027,538,833 - 27,596,124 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNX8
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3(chr7:2109441-2412551)x1 copy number loss See cases [RCV000050962] Chr7:2109441..2412551 [GRCh38]
Chr7:2149076..2452186 [GRCh37]
Chr7:2115602..2418712 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1 copy number loss See cases [RCV000136673] Chr7:1330987..2530644 [GRCh38]
Chr7:1370623..2570278 [GRCh37]
Chr7:1337149..2536804 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4 copy number gain See cases [RCV000137818] Chr7:1085248..2530644 [GRCh38]
Chr7:1124884..2570278 [GRCh37]
Chr7:1091410..2536804 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2		 uncertain significance
GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3 copy number gain See cases [RCV000143263] Chr7:2031462..2653470 [GRCh38]
Chr7:2071097..2693104 [GRCh37]
Chr7:2037623..2659630 [NCBI36]
Chr7:7p22.3		 likely benign|uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4 copy number gain See cases [RCV000240233] Chr7:1004794..4063934 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh38/hg38 7p22.3(chr7:2263321-2337697)x1 copy number loss Premature ovarian failure [RCV000225318] Chr7:2263321..2337697 [GRCh38]
Chr7:2302956..2377332 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3(chr7:2295688-2486368)x1 copy number loss See cases [RCV000446203] Chr7:2295688..2486368 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:1834118-2430156)x3 copy number gain See cases [RCV000446997] Chr7:1834118..2430156 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 copy number gain See cases [RCV000447222] Chr7:43360..2825753 [GRCh37]
Chr7:7p22.3-22.2		 likely pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1 copy number loss See cases [RCV000511648] Chr7:43360..3642604 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_013321.4(SNX8):c.496T>C (p.Ser166Pro) single nucleotide variant Inborn genetic diseases [RCV003291654] Chr7:2271894 [GRCh38]
Chr7:2311529 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.316G>C (p.Val106Leu) single nucleotide variant Inborn genetic diseases [RCV003249524] Chr7:2275214 [GRCh38]
Chr7:2314849 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2126598-2329197)x3 copy number gain not provided [RCV000585320] Chr7:2126598..2329197 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 copy number loss See cases [RCV000512351] Chr7:1201674..5175651 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1 copy number loss not provided [RCV000682839] Chr7:2219184..2612472 [GRCh37]
Chr7:7p22.3		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2268970-2600076)x3 copy number gain not provided [RCV000746334] Chr7:2268970..2600076 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_013321.4(SNX8):c.340G>A (p.Val114Met) single nucleotide variant Inborn genetic diseases [RCV003244526] Chr7:2275190 [GRCh38]
Chr7:2314825 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_013321.4(SNX8):c.1284+9G>T single nucleotide variant not provided [RCV000946990] Chr7:2256865 [GRCh38]
Chr7:2296500 [GRCh37]
Chr7:7p22.3		 benign
NM_013321.4(SNX8):c.427G>C (p.Glu143Gln) single nucleotide variant Inborn genetic diseases [RCV003268162] Chr7:2271963 [GRCh38]
Chr7:2311598 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2214169-2380156)x1 copy number loss not provided [RCV000847251] Chr7:2214169..2380156 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 copy number loss not provided [RCV000849273] Chr7:36616..4298168 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3(chr7:2294689-2317940)x1 copy number loss not provided [RCV000998974] Chr7:2294689..2317940 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2291136-2525534)x3 copy number gain not provided [RCV000845784] Chr7:2291136..2525534 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.101C>T (p.Pro34Leu) single nucleotide variant not provided [RCV000953232] Chr7:2278299 [GRCh38]
Chr7:2317934 [GRCh37]
Chr7:7p22.3		 benign
NM_013321.4(SNX8):c.297C>T (p.Ser99=) single nucleotide variant not provided [RCV000911073] Chr7:2278103 [GRCh38]
Chr7:2317738 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2155103-2629996)x3 copy number gain not provided [RCV001259993] Chr7:2155103..2629996 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2169252-2577781)x3 copy number gain not provided [RCV001259994] Chr7:2169252..2577781 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2082065-2669221)x3 copy number gain not provided [RCV001259998] Chr7:2082065..2669221 [GRCh37]
Chr7:7p22.3		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_013321.4(SNX8):c.1284+16T>C single nucleotide variant not provided [RCV001715700] Chr7:2256858 [GRCh38]
Chr7:2296493 [GRCh37]
Chr7:7p22.3		 benign
NM_013321.4(SNX8):c.32C>G (p.Ala11Gly) single nucleotide variant Inborn genetic diseases [RCV003198634] Chr7:2314390 [GRCh38]
Chr7:2354025 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2319788-2700303) copy number gain not specified [RCV002053664] Chr7:2319788..2700303 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:1871564-2430156)x3 copy number gain not provided [RCV001827633] Chr7:1871564..2430156 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_013321.4(SNX8):c.482G>A (p.Arg161Gln) single nucleotide variant Inborn genetic diseases [RCV003297739] Chr7:2271908 [GRCh38]
Chr7:2311543 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2262524-2433729)x3 copy number gain not provided [RCV002473683] Chr7:2262524..2433729 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.647C>T (p.Ala216Val) single nucleotide variant Inborn genetic diseases [RCV002728228] Chr7:2264433 [GRCh38]
Chr7:2304068 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.1262C>T (p.Ser421Phe) single nucleotide variant Inborn genetic diseases [RCV002684691] Chr7:2256896 [GRCh38]
Chr7:2296531 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.1082C>T (p.Ala361Val) single nucleotide variant Inborn genetic diseases [RCV002776938] Chr7:2257417 [GRCh38]
Chr7:2297052 [GRCh37]
Chr7:7p22.3		 likely benign
NM_013321.4(SNX8):c.898G>A (p.Asp300Asn) single nucleotide variant Inborn genetic diseases [RCV002973242] Chr7:2263247 [GRCh38]
Chr7:2302882 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.1259A>C (p.Asn420Thr) single nucleotide variant Inborn genetic diseases [RCV002684773] Chr7:2256899 [GRCh38]
Chr7:2296534 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.1081G>T (p.Ala361Ser) single nucleotide variant Inborn genetic diseases [RCV002776937] Chr7:2257418 [GRCh38]
Chr7:2297053 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.541G>A (p.Asp181Asn) single nucleotide variant Inborn genetic diseases [RCV002849490] Chr7:2269639 [GRCh38]
Chr7:2309274 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.615G>T (p.Arg205Ser) single nucleotide variant Inborn genetic diseases [RCV002757279] Chr7:2269565 [GRCh38]
Chr7:2309200 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.751G>A (p.Ala251Thr) single nucleotide variant Inborn genetic diseases [RCV002744516] Chr7:2264329 [GRCh38]
Chr7:2303964 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.1205A>T (p.Gln402Leu) single nucleotide variant Inborn genetic diseases [RCV002919583] Chr7:2256953 [GRCh38]
Chr7:2296588 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.638A>T (p.Asp213Val) single nucleotide variant Inborn genetic diseases [RCV002698401] Chr7:2264442 [GRCh38]
Chr7:2304077 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.707G>A (p.Arg236His) single nucleotide variant Inborn genetic diseases [RCV002788375] Chr7:2264373 [GRCh38]
Chr7:2304008 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.289G>C (p.Val97Leu) single nucleotide variant Inborn genetic diseases [RCV002665616] Chr7:2278111 [GRCh38]
Chr7:2317746 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.551A>G (p.Asn184Ser) single nucleotide variant Inborn genetic diseases [RCV002744538] Chr7:2269629 [GRCh38]
Chr7:2309264 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.119A>G (p.Glu40Gly) single nucleotide variant Inborn genetic diseases [RCV002766974] Chr7:2278281 [GRCh38]
Chr7:2317916 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.1007A>G (p.Lys336Arg) single nucleotide variant Inborn genetic diseases [RCV002987923] Chr7:2257492 [GRCh38]
Chr7:2297127 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.41T>A (p.Val14Asp) single nucleotide variant Inborn genetic diseases [RCV003195561] Chr7:2314381 [GRCh38]
Chr7:2354016 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.41T>G (p.Val14Gly) single nucleotide variant Inborn genetic diseases [RCV003196512] Chr7:2314381 [GRCh38]
Chr7:2354016 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_013321.4(SNX8):c.919A>C (p.Lys307Gln) single nucleotide variant Inborn genetic diseases [RCV003198662] Chr7:2257800 [GRCh38]
Chr7:2297435 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3(chr7:2163436-2610093)x3 copy number gain not provided [RCV003484669] Chr7:2163436..2610093 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2275328-2408829)x3 copy number gain not provided [RCV003484670] Chr7:2275328..2408829 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_013321.4(SNX8):c.1377G>A (p.Glu459=) single nucleotide variant not provided [RCV003433718] Chr7:2255077 [GRCh38]
Chr7:2294712 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3 copy number gain not specified [RCV003986692] Chr7:2088540..3127784 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3 copy number gain not specified [RCV003986709] Chr7:2163435..2987198 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4548
Count of miRNA genes:1092
Interacting mature miRNAs:1427
Transcripts:ENST00000222990, ENST00000419693, ENST00000435060, ENST00000435336, ENST00000447136, ENST00000457286, ENST00000479689, ENST00000480807, ENST00000494722
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 329 155 584 113 1037 98 1785 107 1637 225 828 1044 29 854 778 3
Low 2104 2823 1139 509 909 366 2570 2082 2071 193 621 564 142 350 2010 1
Below cutoff 3 8 1 1 4 5 5 1 3 2 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_013321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF121858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP320122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222990   ⟹   ENSP00000222990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,251,770 - 2,314,441 (-)Ensembl
RefSeq Acc Id: ENST00000419693   ⟹   ENSP00000399127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,278,114 - 2,307,950 (-)Ensembl
RefSeq Acc Id: ENST00000435060   ⟹   ENSP00000392437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,264,366 - 2,309,946 (-)Ensembl
RefSeq Acc Id: ENST00000435336   ⟹   ENSP00000406212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,264,440 - 2,354,309 (-)Ensembl
RefSeq Acc Id: ENST00000447136   ⟹   ENSP00000403608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,275,116 - 2,354,318 (-)Ensembl
RefSeq Acc Id: ENST00000457286   ⟹   ENSP00000406954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,264,393 - 2,299,437 (-)Ensembl
RefSeq Acc Id: ENST00000479689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,257,666 - 2,271,896 (-)Ensembl
RefSeq Acc Id: ENST00000480807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,255,040 - 2,257,618 (-)Ensembl
RefSeq Acc Id: ENST00000494722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,274,960 - 2,314,441 (-)Ensembl
RefSeq Acc Id: NM_013321   ⟹   NP_037453
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,251,770 - 2,314,441 (-)NCBI
GRCh3772,291,405 - 2,354,099 (-)ENTREZGENE
Build 3672,261,164 - 2,320,625 (-)NCBI Archive
Celera72,264,329 - 2,323,538 (-)RGD
HuRef72,210,687 - 2,261,757 (-)ENTREZGENE
CHM1_172,291,011 - 2,353,701 (-)NCBI
T2T-CHM13v2.072,365,186 - 2,427,938 (-)NCBI
CRA_TCAGchr7v272,340,080 - 2,402,509 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515329   ⟹   XP_011513631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,251,770 - 2,312,670 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515330   ⟹   XP_011513632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,251,770 - 2,309,956 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012084   ⟹   XP_016867573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,251,770 - 2,354,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420281   ⟹   XP_047276237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,251,770 - 2,310,073 (-)NCBI
RefSeq Acc Id: XM_054358021   ⟹   XP_054213996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,365,186 - 2,426,193 (-)NCBI
RefSeq Acc Id: XM_054358022   ⟹   XP_054213997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,365,186 - 2,423,477 (-)NCBI
RefSeq Acc Id: XM_054358023   ⟹   XP_054213998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,365,186 - 2,467,922 (-)NCBI
RefSeq Acc Id: XM_054358024   ⟹   XP_054213999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,365,186 - 2,423,570 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_037453   ⟸   NM_013321
- UniProtKB: A4D207 (UniProtKB/Swiss-Prot),   Q96I67 (UniProtKB/Swiss-Prot),   Q9Y5X2 (UniProtKB/Swiss-Prot),   B2RDT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513631   ⟸   XM_011515329
- Peptide Label: isoform X1
- UniProtKB: B2RDT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513632   ⟸   XM_011515330
- Peptide Label: isoform X2
- UniProtKB: B2RDT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867573   ⟸   XM_017012084
- Peptide Label: isoform X3
- UniProtKB: B2RDT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000406954   ⟸   ENST00000457286
RefSeq Acc Id: ENSP00000399127   ⟸   ENST00000419693
RefSeq Acc Id: ENSP00000222990   ⟸   ENST00000222990
RefSeq Acc Id: ENSP00000403608   ⟸   ENST00000447136
RefSeq Acc Id: ENSP00000406212   ⟸   ENST00000435336
RefSeq Acc Id: ENSP00000392437   ⟸   ENST00000435060
RefSeq Acc Id: XP_047276237   ⟸   XM_047420281
- Peptide Label: isoform X3
- UniProtKB: B2RDT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213998   ⟸   XM_054358023
- Peptide Label: isoform X3
- UniProtKB: B2RDT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213996   ⟸   XM_054358021
- Peptide Label: isoform X1
- UniProtKB: B2RDT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213999   ⟸   XM_054358024
- Peptide Label: isoform X3
- UniProtKB: B2RDT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213997   ⟸   XM_054358022
- Peptide Label: isoform X2
- UniProtKB: B2RDT8 (UniProtKB/TrEMBL)
Protein Domains
PX

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5X2-F1-model_v2 AlphaFold Q9Y5X2 1-465 view protein structure

Promoters
RGD ID:6806215
Promoter ID:HG_KWN:56023
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000322957
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,263,151 - 2,263,651 (-)MPROMDB
RGD ID:6806216
Promoter ID:HG_KWN:56025
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000322956
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,277,699 - 2,278,199 (-)MPROMDB
RGD ID:6806214
Promoter ID:HG_KWN:56026
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000322954
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,305,466 - 2,306,247 (-)MPROMDB
RGD ID:6806213
Promoter ID:HG_KWN:56027
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000322953
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,313,664 - 2,314,164 (-)MPROMDB
RGD ID:7209815
Promoter ID:EPDNEW_H10653
Type:initiation region
Name:SNX8_1
Description:sorting nexin 8
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
GRCh3872,314,383 - 2,314,443EPDNEW
RGD ID:6806212
Promoter ID:HG_KWN:56028
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000322952
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,316,016 - 2,316,516 (-)MPROMDB
RGD ID:6806217
Promoter ID:HG_KWN:56029
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:OTTHUMT00000322949,   OTTHUMT00000322955
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,320,416 - 2,320,916 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14972 AgrOrtholog
COSMIC SNX8 COSMIC
Ensembl Genes ENSG00000106266 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222990 ENTREZGENE
  ENST00000222990.8 UniProtKB/Swiss-Prot
  ENST00000419693.1 UniProtKB/TrEMBL
  ENST00000435060.5 UniProtKB/TrEMBL
  ENST00000435336.5 UniProtKB/TrEMBL
  ENST00000447136.1 UniProtKB/TrEMBL
  ENST00000457286.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot
  3.30.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Arfaptin homology (AH) domain/BAR domain UniProtKB/TrEMBL
GTEx ENSG00000106266 GTEx
HGNC ID HGNC:14972 ENTREZGENE
Human Proteome Map SNX8 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PX_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNX8/Mvp1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNX8/Mvp1_PX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Snx8_BAR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29886 UniProtKB/Swiss-Prot
NCBI Gene 29886 ENTREZGENE
OMIM 614905 OMIM
PANTHER PTHR46571 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SORTING NEXIN-8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Snx8_BAR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37948 PharmGKB
PROSITE PS50195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF64268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D207 ENTREZGENE
  B2RDT8 ENTREZGENE, UniProtKB/TrEMBL
  C9IYC5_HUMAN UniProtKB/TrEMBL
  C9J014_HUMAN UniProtKB/TrEMBL
  C9J271_HUMAN UniProtKB/TrEMBL
  C9J8E6_HUMAN UniProtKB/TrEMBL
  C9JCB9_HUMAN UniProtKB/TrEMBL
  Q96I67 ENTREZGENE
  Q9Y5X2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A4D207 UniProtKB/Swiss-Prot
  Q96I67 UniProtKB/Swiss-Prot