NSMAF (neutral sphingomyelinase activation associated factor) - Rat Genome Database

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Gene: NSMAF (neutral sphingomyelinase activation associated factor) Homo sapiens
Analyze
Symbol: NSMAF
Name: neutral sphingomyelinase activation associated factor
RGD ID: 1352100
HGNC Page HGNC:8017
Description: Predicted to enable sphingomyelin phosphodiesterase activator activity. Predicted to be involved in ceramide metabolic process and signal transduction. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: factor associated with N-SMase activation; factor associated with neutral sphingomyelinase activation; FAN; GRAMD5; neutral sphingomyelinase (N-SMase) activation associated factor
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
GRCh38858,583,504 - 58,659,853 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl858,583,508 - 58,659,853 (-)EnsemblGRCh38hg38GRCh38
GRCh37859,496,063 - 59,572,412 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36859,658,617 - 59,734,940 (-)NCBINCBI36Build 36hg18NCBI36
Build 34859,658,616 - 59,734,940NCBI
Celera855,489,087 - 55,565,423 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef854,983,237 - 55,059,459 (-)NCBIHuRef
CHM1_1859,547,946 - 59,624,282 (-)NCBICHM1_1
T2T-CHM13v2.0859,004,662 - 59,081,032 (-)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
cytoplasm  (TAS)
cytosol  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8808629   PMID:9620659   PMID:10187805   PMID:10601289   PMID:10640829   PMID:12391233   PMID:12477932   PMID:15653433   PMID:17599063   PMID:18653803   PMID:19913121   PMID:20562859  
PMID:20628086   PMID:23382691   PMID:24130170   PMID:25798074   PMID:26133670   PMID:26186194   PMID:26496610   PMID:28514442   PMID:28611215   PMID:29115933   PMID:29621545   PMID:31006538  
PMID:32513696   PMID:33226137   PMID:33961781  


Genomics

Comparative Map Data
NSMAF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38858,583,504 - 58,659,853 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl858,583,508 - 58,659,853 (-)EnsemblGRCh38hg38GRCh38
GRCh37859,496,063 - 59,572,412 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36859,658,617 - 59,734,940 (-)NCBINCBI36Build 36hg18NCBI36
Build 34859,658,616 - 59,734,940NCBI
Celera855,489,087 - 55,565,423 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef854,983,237 - 55,059,459 (-)NCBIHuRef
CHM1_1859,547,946 - 59,624,282 (-)NCBICHM1_1
T2T-CHM13v2.0859,004,662 - 59,081,032 (-)NCBIT2T-CHM13v2.0
Nsmaf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3946,396,207 - 6,454,840 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl46,396,207 - 6,454,271 (-)EnsemblGRCm39 Ensembl
GRCm3846,396,207 - 6,454,840 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl46,396,207 - 6,454,271 (-)EnsemblGRCm38mm10GRCm38
MGSCv3746,323,354 - 6,381,418 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3646,323,373 - 6,381,408 (-)NCBIMGSCv36mm8
Celera46,314,494 - 6,371,636 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map42.91NCBI
Nsmaf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8524,315,319 - 24,378,346 (-)NCBIGRCr8
mRatBN7.2519,517,795 - 19,578,773 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl519,518,348 - 19,577,627 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx521,724,726 - 21,784,761 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0523,315,757 - 23,375,697 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0523,096,063 - 23,155,999 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0519,499,111 - 19,560,308 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl519,499,480 - 19,559,393 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0524,284,202 - 24,330,089 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4519,850,388 - 19,896,839 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1519,850,387 - 19,896,826 (-)NCBI
Celera518,818,560 - 18,876,983 (-)NCBICelera
Cytogenetic Map5q12NCBI
Nsmaf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545417,114,391 - 17,162,899 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545417,113,817 - 17,162,900 (-)NCBIChiLan1.0ChiLan1.0
NSMAF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2774,264,808 - 74,343,882 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1849,918,656 - 49,997,813 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0855,023,206 - 55,099,816 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1856,674,476 - 56,751,615 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl856,674,483 - 56,751,585 (-)Ensemblpanpan1.1panPan2
NSMAF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1299,371,111 - 9,427,781 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl299,371,446 - 9,428,149 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha299,683,855 - 9,741,168 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0299,456,517 - 9,514,056 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl299,456,528 - 9,514,387 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1299,454,605 - 9,511,846 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0299,580,282 - 9,637,690 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0299,859,864 - 9,917,254 (-)NCBIUU_Cfam_GSD_1.0
Nsmaf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530360,454,147 - 60,509,699 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649614,275,500 - 14,331,627 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649614,275,582 - 14,331,330 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NSMAF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl474,236,826 - 74,298,193 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1474,231,488 - 74,296,681 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2481,031,102 - 81,089,597 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NSMAF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1854,565,714 - 54,642,896 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl854,567,121 - 54,642,054 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603987,075,409 - 87,157,007 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nsmaf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474433,439,068 - 33,528,413 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NSMAF
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1 copy number loss See cases [RCV000054240] Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1		 pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1 copy number loss See cases [RCV000054241] Chr8:56925812..61691859 [GRCh38]
Chr8:57838371..62604418 [GRCh37]
Chr8:58000925..62766972 [NCBI36]
Chr8:8q12.1-12.3		 pathogenic
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_003580.4(NSMAF):c.1126-25_1126-23dup duplication not specified [RCV000454691] Chr8:58601546..58601547 [GRCh38]
Chr8:59514105..59514106 [GRCh37]
Chr8:8q12.1		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:59446454-59523394)x3 copy number gain not provided [RCV000747594] Chr8:59446454..59523394 [GRCh37]
Chr8:8q12.1		 benign
NM_003580.4(NSMAF):c.128A>C (p.His43Pro) single nucleotide variant Inborn genetic diseases [RCV003269037] Chr8:58643005 [GRCh38]
Chr8:59555564 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
NM_003580.4(NSMAF):c.2357C>G (p.Thr786Arg) single nucleotide variant Inborn genetic diseases [RCV003246490] Chr8:58586547 [GRCh38]
Chr8:59499106 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:58247706-60355217) copy number loss not specified [RCV002053765] Chr8:58247706..60355217 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.741G>T (p.Arg247Ser) single nucleotide variant Inborn genetic diseases [RCV002945125] Chr8:58607787 [GRCh38]
Chr8:59520346 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.59+327C>G single nucleotide variant Inborn genetic diseases [RCV002905341] Chr8:58659246 [GRCh38]
Chr8:59571805 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.59+293C>G single nucleotide variant Inborn genetic diseases [RCV002817469] Chr8:58659280 [GRCh38]
Chr8:59571839 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.2144A>G (p.Asp715Gly) single nucleotide variant Inborn genetic diseases [RCV002883788] Chr8:58589519 [GRCh38]
Chr8:59502078 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.527G>A (p.Arg176His) single nucleotide variant Inborn genetic diseases [RCV002974763] Chr8:58623250 [GRCh38]
Chr8:59535809 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.1047T>A (p.Asp349Glu) single nucleotide variant Inborn genetic diseases [RCV002882680] Chr8:58602136 [GRCh38]
Chr8:59514695 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.412G>A (p.Asp138Asn) single nucleotide variant Inborn genetic diseases [RCV002728163] Chr8:58623753 [GRCh38]
Chr8:59536312 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.1679T>G (p.Phe560Cys) single nucleotide variant Inborn genetic diseases [RCV002887257] Chr8:58597500 [GRCh38]
Chr8:59510059 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.370T>C (p.Tyr124His) single nucleotide variant Inborn genetic diseases [RCV002978000] Chr8:58631510 [GRCh38]
Chr8:59544069 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.1063A>G (p.Thr355Ala) single nucleotide variant Inborn genetic diseases [RCV002737342] Chr8:58602120 [GRCh38]
Chr8:59514679 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.2053G>A (p.Ala685Thr) single nucleotide variant Inborn genetic diseases [RCV002803372] Chr8:58590041 [GRCh38]
Chr8:59502600 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.1184C>T (p.Pro395Leu) single nucleotide variant Inborn genetic diseases [RCV002987038] Chr8:58601477 [GRCh38]
Chr8:59514036 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.2320G>A (p.Ala774Thr) single nucleotide variant Inborn genetic diseases [RCV002915846] Chr8:58586584 [GRCh38]
Chr8:59499143 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.2384C>T (p.Ala795Val) single nucleotide variant Inborn genetic diseases [RCV002742605] Chr8:58586520 [GRCh38]
Chr8:59499079 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.526C>T (p.Arg176Cys) single nucleotide variant Inborn genetic diseases [RCV002850268] Chr8:58623251 [GRCh38]
Chr8:59535810 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.1271T>G (p.Met424Arg) single nucleotide variant Inborn genetic diseases [RCV002748450] Chr8:58601294 [GRCh38]
Chr8:59513853 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.611C>T (p.Thr204Met) single nucleotide variant Inborn genetic diseases [RCV002961770] Chr8:58609680 [GRCh38]
Chr8:59522239 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.329G>C (p.Ser110Thr) single nucleotide variant Inborn genetic diseases [RCV002678303] Chr8:58635193 [GRCh38]
Chr8:59547752 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.820G>A (p.Glu274Lys) single nucleotide variant Inborn genetic diseases [RCV003179199] Chr8:58605975 [GRCh38]
Chr8:59518534 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.673C>G (p.Leu225Val) single nucleotide variant Inborn genetic diseases [RCV003201267] Chr8:58609618 [GRCh38]
Chr8:59522177 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.1416G>T (p.Gln472His) single nucleotide variant Inborn genetic diseases [RCV003201753] Chr8:58599787 [GRCh38]
Chr8:59512346 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.59+350C>G single nucleotide variant Inborn genetic diseases [RCV003188446] Chr8:58659223 [GRCh38]
Chr8:59571782 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.59+348G>A single nucleotide variant Inborn genetic diseases [RCV003304809] Chr8:58659225 [GRCh38]
Chr8:59571784 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.538A>G (p.Thr180Ala) single nucleotide variant Inborn genetic diseases [RCV003359229] Chr8:58623239 [GRCh38]
Chr8:59535798 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.1705G>A (p.Val569Met) single nucleotide variant Inborn genetic diseases [RCV003365915] Chr8:58597474 [GRCh38]
Chr8:59510033 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_003580.4(NSMAF):c.658C>A (p.Leu220Met) single nucleotide variant Inborn genetic diseases [RCV003373516] Chr8:58609633 [GRCh38]
Chr8:59522192 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1960
Count of miRNA genes:897
Interacting mature miRNAs:1044
Transcripts:ENST00000038176, ENST00000427130, ENST00000517612, ENST00000518159, ENST00000518229, ENST00000519166, ENST00000519174, ENST00000519227, ENST00000519858, ENST00000519871, ENST00000521712, ENST00000521972, ENST00000522645, ENST00000523106, ENST00000523177, ENST00000523982, ENST00000524148
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.

Markers in Region
D8S1515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,496,106 - 59,496,259UniSTSGRCh37
Build 36859,658,660 - 59,658,813RGDNCBI36
Celera855,489,130 - 55,489,283RGD
Cytogenetic Map8q12-q13UniSTS
HuRef854,983,280 - 54,983,433UniSTS
GeneMap99-GB4 RH Map8300.0UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map8711.6UniSTS
SHGC-24319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,496,106 - 59,496,233UniSTSGRCh37
Build 36859,658,660 - 59,658,787RGDNCBI36
Celera855,489,130 - 55,489,257RGD
Cytogenetic Map8q12-q13UniSTS
HuRef854,983,280 - 54,983,407UniSTS
GeneMap99-G3 RH Map82497.0UniSTS
RH11476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,496,240 - 59,496,357UniSTSGRCh37
Build 36859,658,794 - 59,658,911RGDNCBI36
Celera855,489,264 - 55,489,381RGD
Cytogenetic Map8q12-q13UniSTS
HuRef854,983,414 - 54,983,531UniSTS
GeneMap99-GB4 RH Map8322.11UniSTS
NCBI RH Map8795.3UniSTS
STS-W93092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,513,764 - 59,514,095UniSTSGRCh37
Build 36859,676,318 - 59,676,649RGDNCBI36
Celera855,506,778 - 55,507,109RGD
Cytogenetic Map8q12-q13UniSTS
HuRef855,000,815 - 55,001,146UniSTS
GeneMap99-GB4 RH Map8317.86UniSTS


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 2351 1973 1290 207 1579 59 4056 1494 2245 232 1211 1581 161 1197 2490 3
Low 81 1011 432 414 369 404 299 699 1463 186 235 25 10 7 298 1
Below cutoff 1 1 1 2 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001144772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR005814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X96586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000038176   ⟹   ENSP00000038176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,583,508 - 58,659,853 (-)Ensembl
RefSeq Acc Id: ENST00000427130   ⟹   ENSP00000411012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,583,770 - 58,659,534 (-)Ensembl
RefSeq Acc Id: ENST00000517612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,586,349 - 58,591,009 (-)Ensembl
RefSeq Acc Id: ENST00000518159   ⟹   ENSP00000430982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,623,751 - 58,659,664 (-)Ensembl
RefSeq Acc Id: ENST00000518229   ⟹   ENSP00000430195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,623,747 - 58,659,638 (-)Ensembl
RefSeq Acc Id: ENST00000519166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,589,522 - 58,594,300 (-)Ensembl
RefSeq Acc Id: ENST00000519174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,590,866 - 58,594,747 (-)Ensembl
RefSeq Acc Id: ENST00000519227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,597,473 - 58,600,178 (-)Ensembl
RefSeq Acc Id: ENST00000519858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,601,168 - 58,623,419 (-)Ensembl
RefSeq Acc Id: ENST00000519871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,631,428 - 58,659,214 (-)Ensembl
RefSeq Acc Id: ENST00000521712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,586,359 - 58,589,656 (-)Ensembl
RefSeq Acc Id: ENST00000521972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,583,809 - 58,586,578 (-)Ensembl
RefSeq Acc Id: ENST00000522645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,631,365 - 58,659,698 (-)Ensembl
RefSeq Acc Id: ENST00000523106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,590,001 - 58,599,480 (-)Ensembl
RefSeq Acc Id: ENST00000523177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,587,649 - 58,595,902 (-)Ensembl
RefSeq Acc Id: ENST00000523982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,597,403 - 58,600,178 (-)Ensembl
RefSeq Acc Id: ENST00000524148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,589,752 - 58,594,878 (-)Ensembl
RefSeq Acc Id: ENST00000649465   ⟹   ENSP00000498107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,583,532 - 58,659,780 (-)Ensembl
RefSeq Acc Id: NM_001144772   ⟹   NP_001138244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,504 - 58,659,407 (-)NCBI
GRCh37859,496,063 - 59,572,404 (-)RGD
Celera855,489,087 - 55,565,423 (-)RGD
HuRef854,983,237 - 55,059,459 (-)RGD
CHM1_1859,547,946 - 59,623,844 (-)NCBI
T2T-CHM13v2.0859,004,662 - 59,080,586 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001412988   ⟹   NP_001399917
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412989   ⟹   NP_001399918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,586,354 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,007,512 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412990   ⟹   NP_001399919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412991   ⟹   NP_001399920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412992   ⟹   NP_001399921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412993   ⟹   NP_001399922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412994   ⟹   NP_001399923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412995   ⟹   NP_001399924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,585,140 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,006,298 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412996   ⟹   NP_001399925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412997   ⟹   NP_001399926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412998   ⟹   NP_001399927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001412999   ⟹   NP_001399928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001413000   ⟹   NP_001399929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001413001   ⟹   NP_001399930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001413002   ⟹   NP_001399931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001413003   ⟹   NP_001399932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001413004   ⟹   NP_001399933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001413005   ⟹   NP_001399934
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001413006   ⟹   NP_001399935
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NM_001413007   ⟹   NP_001399936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,596,075 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,017,229 (-)NCBI
RefSeq Acc Id: NM_001413008   ⟹   NP_001399937
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,595,856 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,017,010 (-)NCBI
RefSeq Acc Id: NM_001413009   ⟹   NP_001399938
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,594,854 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,016,009 (-)NCBI
RefSeq Acc Id: NM_003580   ⟹   NP_003571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
GRCh37859,496,063 - 59,572,404 (-)RGD
Build 36859,658,617 - 59,734,940 (-)NCBI Archive
Celera855,489,087 - 55,565,423 (-)RGD
HuRef854,983,237 - 55,059,459 (-)RGD
CHM1_1859,547,946 - 59,624,282 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
Sequence:
RefSeq Acc Id: NR_182084
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NR_182085
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NR_182086
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NR_182087
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NR_182088
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: NR_182089
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,508 - 58,659,853 (-)NCBI
T2T-CHM13v2.0859,004,666 - 59,081,032 (-)NCBI
RefSeq Acc Id: XM_047422320   ⟹   XP_047278276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,583,504 - 58,637,503 (-)NCBI
RefSeq Acc Id: XM_054361353   ⟹   XP_054217328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0859,004,662 - 59,058,686 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001138244 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399917 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399918 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399919 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399920 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399921 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399922 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399923 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399924 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399925 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399926 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399927 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399928 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399929 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399930 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399931 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399932 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399933 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399934 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399935 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399936 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399937 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399938 (Get FASTA)   NCBI Sequence Viewer  
  NP_003571 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278276 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217328 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH41124 (Get FASTA)   NCBI Sequence Viewer  
  BAF85368 (Get FASTA)   NCBI Sequence Viewer  
  BAG36703 (Get FASTA)   NCBI Sequence Viewer  
  BAG57371 (Get FASTA)   NCBI Sequence Viewer  
  CAA65405 (Get FASTA)   NCBI Sequence Viewer  
  EAW86817 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000038176
  ENSP00000038176.3
  ENSP00000411012
  ENSP00000411012.2
  ENSP00000430195.1
  ENSP00000430982.1
  ENSP00000498107.1
GenBank Protein Q92636 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003571   ⟸   NM_003580
- Peptide Label: isoform 1
- UniProtKB: E9PCH0 (UniProtKB/Swiss-Prot),   B4DFB0 (UniProtKB/Swiss-Prot),   Q8IW26 (UniProtKB/Swiss-Prot),   Q92636 (UniProtKB/Swiss-Prot),   B2RA06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138244   ⟸   NM_001144772
- Peptide Label: isoform 2
- UniProtKB: B2RA06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498107   ⟸   ENST00000649465
RefSeq Acc Id: ENSP00000430982   ⟸   ENST00000518159
RefSeq Acc Id: ENSP00000430195   ⟸   ENST00000518229
RefSeq Acc Id: ENSP00000411012   ⟸   ENST00000427130
RefSeq Acc Id: ENSP00000038176   ⟸   ENST00000038176
RefSeq Acc Id: XP_047278276   ⟸   XM_047422320
- Peptide Label: isoform X1
RefSeq Acc Id: NP_001399917   ⟸   NM_001412988
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001399925   ⟸   NM_001412996
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001399931   ⟸   NM_001413002
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001399921   ⟸   NM_001412992
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001399934   ⟸   NM_001413005
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001399919   ⟸   NM_001412990
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001399927   ⟸   NM_001412998
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001399923   ⟸   NM_001412994
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001399922   ⟸   NM_001412993
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001399935   ⟸   NM_001413006
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001399929   ⟸   NM_001413000
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001399920   ⟸   NM_001412991
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001399930   ⟸   NM_001413001
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001399932   ⟸   NM_001413003
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001399933   ⟸   NM_001413004
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001399928   ⟸   NM_001412999
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001399926   ⟸   NM_001412997
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001399936   ⟸   NM_001413007
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001399937   ⟸   NM_001413008
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001399938   ⟸   NM_001413009
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001399924   ⟸   NM_001412995
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001399918   ⟸   NM_001412989
- Peptide Label: isoform 4
RefSeq Acc Id: XP_054217328   ⟸   XM_054361353
- Peptide Label: isoform X1
Protein Domains
BEACH   BEACH-type PH   GRAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92636-F1-model_v2 AlphaFold Q92636 1-917 view protein structure

Promoters
RGD ID:7213361
Promoter ID:EPDNEW_H12426
Type:initiation region
Name:NSMAF_2
Description:neutral sphingomyelinase activation associated factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12427  EPDNEW_H12428  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,659,638 - 58,659,698EPDNEW
RGD ID:7213363
Promoter ID:EPDNEW_H12427
Type:initiation region
Name:NSMAF_1
Description:neutral sphingomyelinase activation associated factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12426  EPDNEW_H12428  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,659,829 - 58,659,889EPDNEW
RGD ID:7213365
Promoter ID:EPDNEW_H12428
Type:initiation region
Name:NSMAF_3
Description:neutral sphingomyelinase activation associated factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12426  EPDNEW_H12427  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,659,962 - 58,660,022EPDNEW
RGD ID:6806906
Promoter ID:HG_KWN:61352
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001144772,   UC003XTT.1,   UC003XTU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36859,734,336 - 59,734,917 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8017 AgrOrtholog
COSMIC NSMAF COSMIC
Ensembl Genes ENSG00000035681 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000038176 ENTREZGENE
  ENST00000038176.8 UniProtKB/Swiss-Prot
  ENST00000427130 ENTREZGENE
  ENST00000427130.6 UniProtKB/Swiss-Prot
  ENST00000518159.5 UniProtKB/TrEMBL
  ENST00000518229.5 UniProtKB/TrEMBL
  ENST00000649465 ENTREZGENE
  ENST00000649465.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1540.10 UniProtKB/Swiss-Prot
  2.130.10.10 UniProtKB/Swiss-Prot
  2.30.29.30 UniProtKB/Swiss-Prot
  BEACH domain UniProtKB/TrEMBL
  Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB) UniProtKB/TrEMBL
  YVTN repeat-like/Quinoprotein amine dehydrogenase UniProtKB/TrEMBL
GTEx ENSG00000035681 GTEx
HGNC ID HGNC:8017 ENTREZGENE
Human Proteome Map NSMAF Human Proteome Map
InterPro BEACH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BEACH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-BEACH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8439 UniProtKB/Swiss-Prot
NCBI Gene 8439 ENTREZGENE
OMIM 603043 OMIM
PANTHER BEIGE/BEACH-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN FAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Beach UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31795 PharmGKB
PROSITE BEACH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_BEACH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Beach UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP BEACH domain UniProtKB/TrEMBL
  PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot
  SSF81837 UniProtKB/Swiss-Prot
  WD40 repeat-like UniProtKB/TrEMBL
UniProt B2RA06 ENTREZGENE, UniProtKB/TrEMBL
  B4DFB0 ENTREZGENE
  E5RGF5_HUMAN UniProtKB/TrEMBL
  E5RGU2_HUMAN UniProtKB/TrEMBL
  E9PCH0 ENTREZGENE
  FAN_HUMAN UniProtKB/Swiss-Prot
  Q8IW26 ENTREZGENE
  Q92636 ENTREZGENE
UniProt Secondary B4DFB0 UniProtKB/Swiss-Prot
  E9PCH0 UniProtKB/Swiss-Prot
  Q8IW26 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 NSMAF  neutral sphingomyelinase activation associated factor  NSMAF  neutral sphingomyelinase (N-SMase) activation associated factor  Symbol and/or name change 5135510 APPROVED