STBD1 (starch binding domain 1) - Rat Genome Database

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Gene: STBD1 (starch binding domain 1) Homo sapiens
Analyze
Symbol: STBD1
Name: starch binding domain 1
RGD ID: 1604058
HGNC Page HGNC:24854
Description: Enables enzyme binding activity and glycogen binding activity. Involved in glycophagy and intracellular transport. Located in T-tubule; endoplasmic reticulum; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ41801; genethonin 1; genethonin-1; GENEX3414; GENX-3414; glycophagy cargo receptor STBD1; starch-binding domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: STBD1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38476,306,733 - 76,311,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl476,306,733 - 76,311,130 (+)EnsemblGRCh38hg38GRCh38
GRCh37477,227,886 - 77,232,283 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36477,446,823 - 77,451,307 (+)NCBINCBI36Build 36hg18NCBI36
Celera474,527,815 - 74,532,422 (+)NCBICelera
Cytogenetic Map4q21.1NCBI
HuRef472,979,421 - 72,984,526 (+)NCBIHuRef
CHM1_1477,203,674 - 77,208,779 (+)NCBICHM1_1
T2T-CHM13v2.0479,647,451 - 79,651,849 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP,ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
chrysene  (ISO)
ciglitazone  (EXP)
cisplatin  (ISO)
clomipramine  (ISO)
cobalt dichloride  (EXP,ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
decabromodiphenyl ether  (EXP)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
flutamide  (ISO)
genistein  (ISO)
gentamycin  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
imipramine  (ISO)
inulin  (ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
leflunomide  (EXP,ISO)
mercury dichloride  (ISO)
mitomycin C  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phorone  (ISO)
piperonyl butoxide  (ISO)
potassium dichromate  (ISO)
prochloraz  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
resorcinol  (EXP)
resveratrol  (ISO)
selenium atom  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)
zinc dichloride  (EXP)

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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8828038   PMID:9794794   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15489334   PMID:16303743   PMID:19915575   PMID:20562859   PMID:20810658   PMID:21873635   PMID:21893048  
PMID:22658674   PMID:24837458   PMID:25416956   PMID:26186194   PMID:27358407   PMID:28514442   PMID:29395067   PMID:29568061   PMID:29845934   PMID:31056421   PMID:31177093   PMID:31871319  
PMID:32513696   PMID:32788342   PMID:32807901   PMID:32877691   PMID:33957083   PMID:33961781   PMID:34059679   PMID:34079125   PMID:34432599   PMID:34672954   PMID:34702444   PMID:34709727  
PMID:35022314   PMID:35044719   PMID:37232246  


Genomics

Comparative Map Data
STBD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38476,306,733 - 76,311,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl476,306,733 - 76,311,130 (+)EnsemblGRCh38hg38GRCh38
GRCh37477,227,886 - 77,232,283 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36477,446,823 - 77,451,307 (+)NCBINCBI36Build 36hg18NCBI36
Celera474,527,815 - 74,532,422 (+)NCBICelera
Cytogenetic Map4q21.1NCBI
HuRef472,979,421 - 72,984,526 (+)NCBIHuRef
CHM1_1477,203,674 - 77,208,779 (+)NCBICHM1_1
T2T-CHM13v2.0479,647,451 - 79,651,849 (+)NCBIT2T-CHM13v2.0
Stbd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39592,750,910 - 92,754,438 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl592,750,900 - 92,754,438 (+)EnsemblGRCm39 Ensembl
GRCm38592,603,051 - 92,606,579 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl592,603,041 - 92,606,579 (+)EnsemblGRCm38mm10GRCm38
MGSCv37593,032,077 - 93,035,605 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36593,678,255 - 93,681,783 (+)NCBIMGSCv36mm8
Celera590,744,537 - 90,747,984 (+)NCBICelera
Cytogenetic Map5E2NCBI
cM Map547.21NCBI
Stbd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21415,470,452 - 15,473,857 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1415,469,582 - 15,477,443 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1415,478,421 - 15,481,826 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01416,797,258 - 16,800,663 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01415,492,680 - 15,496,085 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01416,976,355 - 16,979,760 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1416,976,356 - 16,979,760 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01416,889,874 - 16,893,279 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41417,031,752 - 17,035,157 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11417,031,752 - 17,035,157 (-)NCBI
Celera1414,865,243 - 14,868,648 (-)NCBICelera
Cytogenetic Map14p22NCBI
Stbd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554331,036,265 - 1,038,652 (+)NCBIChiLan1.0ChiLan1.0
STBD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1453,946,865 - 53,952,342 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0447,889,830 - 47,894,943 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1453,729,242 - 53,734,492 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl453,729,242 - 53,734,492 (-)Ensemblpanpan1.1panPan2
STBD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.132932,245 - 953,070 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl32951,698 - 952,897 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3240,930,912 - 40,933,707 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.032974,973 - 977,768 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl32975,002 - 977,591 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.132972,850 - 975,644 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.032927,058 - 929,832 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03239,245,883 - 39,248,678 (-)NCBIUU_Cfam_GSD_1.0
Stbd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528511,203,033 - 11,207,050 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936676299,963 - 304,213 (+)EnsemblSpeTri2.0
SpeTri2.0NW_004936676300,244 - 304,206 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STBD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1871,982,987 - 71,987,880 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2876,178,011 - 76,182,546 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STBD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1724,799,870 - 24,804,273 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl724,799,906 - 24,804,473 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660373,147,865 - 3,153,301 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stbd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475714,631,455 - 14,634,147 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475714,629,607 - 14,634,274 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STBD1
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 copy number loss See cases [RCV000050786] Chr4:75453111..84094295 [GRCh38]
Chr4:76378321..85015448 [GRCh37]
Chr4:76597345..85234472 [NCBI36]
Chr4:4q21.1-21.23		 pathogenic
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23		 pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22		 pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1		 pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3		 pathogenic
GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3 copy number gain See cases [RCV000141486] Chr4:75801143..79005805 [GRCh38]
Chr4:76722296..79926959 [GRCh37]
Chr4:76941320..80145983 [NCBI36]
Chr4:4q21.1-21.21		 pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1 copy number loss not provided [RCV000682421] Chr4:74890695..77318961 [GRCh37]
Chr4:4q13.3-21.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21		 pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1		 pathogenic
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23		 pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22		 pathogenic
NM_003943.5(STBD1):c.586G>T (p.Asp196Tyr) single nucleotide variant Inborn genetic diseases [RCV003273789] Chr4:76309509 [GRCh38]
Chr4:77230662 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3		 pathogenic
GRCh37/hg19 4q21.1(chr4:76998519-77433888)x3 copy number gain not provided [RCV001259272] Chr4:76998519..77433888 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154) copy number loss not specified [RCV002053427] Chr4:73055313..80083154 [GRCh37]
Chr4:4q13.3-21.21		 pathogenic
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156) copy number gain not specified [RCV002053429] Chr4:75737340..91131156 [GRCh37]
Chr4:4q13.3-22.1		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NC_000004.11:g.(?_76481293)_(77700330_?)del deletion Progressive myoclonic epilepsy [RCV001950969] Chr4:76481293..77700330 [GRCh37]
Chr4:4q21.1		 pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
NM_003943.5(STBD1):c.590G>A (p.Arg197Gln) single nucleotide variant Inborn genetic diseases [RCV002753801] Chr4:76309513 [GRCh38]
Chr4:77230666 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.239A>G (p.Asn80Ser) single nucleotide variant Inborn genetic diseases [RCV002797976] Chr4:76309162 [GRCh38]
Chr4:77230315 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.15G>C (p.Trp5Cys) single nucleotide variant Inborn genetic diseases [RCV002797463] Chr4:76306784 [GRCh38]
Chr4:77227937 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.365A>G (p.Asp122Gly) single nucleotide variant Inborn genetic diseases [RCV002844884] Chr4:76309288 [GRCh38]
Chr4:77230441 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.763G>A (p.Ala255Thr) single nucleotide variant Inborn genetic diseases [RCV002660753] Chr4:76309686 [GRCh38]
Chr4:77230839 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.341A>G (p.His114Arg) single nucleotide variant Inborn genetic diseases [RCV002798145] Chr4:76309264 [GRCh38]
Chr4:77230417 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.880A>G (p.Asn294Asp) single nucleotide variant Inborn genetic diseases [RCV002870498] Chr4:76309803 [GRCh38]
Chr4:77230956 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.1025T>C (p.Leu342Pro) single nucleotide variant Inborn genetic diseases [RCV002854494] Chr4:76309948 [GRCh38]
Chr4:77231101 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.1063T>C (p.Trp355Arg) single nucleotide variant Inborn genetic diseases [RCV002987576] Chr4:76309986 [GRCh38]
Chr4:77231139 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.154G>T (p.Gly52Cys) single nucleotide variant Inborn genetic diseases [RCV002826949] Chr4:76306923 [GRCh38]
Chr4:77228076 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.538A>C (p.Lys180Gln) single nucleotide variant Inborn genetic diseases [RCV002855939] Chr4:76309461 [GRCh38]
Chr4:77230614 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.1057G>A (p.Ala353Thr) single nucleotide variant Inborn genetic diseases [RCV002673219] Chr4:76309980 [GRCh38]
Chr4:77231133 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.335G>A (p.Arg112Lys) single nucleotide variant Inborn genetic diseases [RCV002718301] Chr4:76309258 [GRCh38]
Chr4:77230411 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.1060T>C (p.Trp354Arg) single nucleotide variant Inborn genetic diseases [RCV002921069] Chr4:76309983 [GRCh38]
Chr4:77231136 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.532C>G (p.Leu178Val) single nucleotide variant Inborn genetic diseases [RCV002670247] Chr4:76309455 [GRCh38]
Chr4:77230608 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.790G>C (p.Val264Leu) single nucleotide variant Inborn genetic diseases [RCV002812685] Chr4:76309713 [GRCh38]
Chr4:77230866 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.71G>C (p.Arg24Pro) single nucleotide variant Inborn genetic diseases [RCV002655103] Chr4:76306840 [GRCh38]
Chr4:77227993 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.356A>G (p.Gln119Arg) single nucleotide variant Inborn genetic diseases [RCV003201156] Chr4:76309279 [GRCh38]
Chr4:77230432 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.4G>A (p.Gly2Ser) single nucleotide variant Inborn genetic diseases [RCV003205755] Chr4:76306773 [GRCh38]
Chr4:77227926 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_003943.5(STBD1):c.290C>T (p.Ser97Leu) single nucleotide variant Inborn genetic diseases [RCV003209449] Chr4:76309213 [GRCh38]
Chr4:77230366 [GRCh37]
Chr4:4q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:662
Count of miRNA genes:474
Interacting mature miRNAs:520
Transcripts:ENST00000237642, ENST00000539752
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-63500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,232,117 - 77,232,224UniSTSGRCh37
Build 36477,451,141 - 77,451,248RGDNCBI36
Celera474,532,256 - 74,532,363RGD
Cytogenetic Map4qUniSTS
Cytogenetic Map4q21.1UniSTS
HuRef472,984,360 - 72,984,467UniSTS
SHGC-133062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,232,092 - 77,232,224UniSTSGRCh37
Build 36477,451,116 - 77,451,248RGDNCBI36
Celera474,532,231 - 74,532,363RGD
Cytogenetic Map4qUniSTS
Cytogenetic Map4q21.1UniSTS
HuRef472,984,335 - 72,984,467UniSTS
TNG Radiation Hybrid Map444356.0UniSTS
GENX-_3414_8882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,231,438 - 77,232,296UniSTSGRCh37
Build 36477,450,462 - 77,451,320RGDNCBI36
Celera474,531,577 - 74,532,435RGD
HuRef472,983,681 - 72,984,539UniSTS
SHGC-63501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,230,694 - 77,230,855UniSTSGRCh37
Build 36477,449,718 - 77,449,879RGDNCBI36
Celera474,530,833 - 74,530,994RGD
Cytogenetic Map4qUniSTS
Cytogenetic Map4q21.1UniSTS
HuRef472,982,937 - 72,983,098UniSTS
TNG Radiation Hybrid Map444356.0UniSTS
D4S2479E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,232,058 - 77,232,200UniSTSGRCh37
Build 36477,451,082 - 77,451,224RGDNCBI36
Celera474,532,197 - 74,532,339RGD
Cytogenetic Map4qUniSTS
Cytogenetic Map4q21.1UniSTS
HuRef472,984,301 - 72,984,443UniSTS
GeneMap99-GB4 RH Map4436.22UniSTS
WI-17734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37477,231,460 - 77,231,609UniSTSGRCh37
Build 36477,450,484 - 77,450,633RGDNCBI36
Celera474,531,599 - 74,531,748RGD
Cytogenetic Map4qUniSTS
Cytogenetic Map4q21.1UniSTS
HuRef472,983,703 - 72,983,852UniSTS
GeneMap99-GB4 RH Map4450.06UniSTS
Whitehead-RH Map4491.5UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS


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 1810 2046 363 304 171 257 2343 1932 344 28 675 620 47 1143 1677
Low 613 909 1348 315 1125 204 1981 233 3334 360 757 959 123 61 1110 3
Below cutoff 8 25 8 3 249 3 20 16 26 29 16 25 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000237642   ⟹   ENSP00000237642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,306,733 - 76,311,130 (+)Ensembl
RefSeq Acc Id: NM_003943   ⟹   NP_003934
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,306,733 - 76,311,130 (+)NCBI
GRCh37477,227,179 - 77,232,283 (+)NCBI
Build 36477,446,823 - 77,451,307 (+)NCBI Archive
Celera474,527,815 - 74,532,422 (+)RGD
HuRef472,979,421 - 72,984,526 (+)NCBI
CHM1_1477,203,674 - 77,208,779 (+)NCBI
T2T-CHM13v2.0479,647,451 - 79,651,849 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_003934   ⟸   NM_003943
- UniProtKB: B3KVZ9 (UniProtKB/Swiss-Prot),   O95210 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000237642   ⟸   ENST00000237642
Protein Domains
CBM20

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95210-F1-model_v2 AlphaFold O95210 1-358 view protein structure

Promoters
RGD ID:6867782
Promoter ID:EPDNEW_H7056
Type:initiation region
Name:STBD1_3
Description:starch binding domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7055  EPDNEW_H7057  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,306,218 - 76,306,278EPDNEW
RGD ID:6867784
Promoter ID:EPDNEW_H7057
Type:initiation region
Name:STBD1_1
Description:starch binding domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7055  EPDNEW_H7056  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,306,742 - 76,306,802EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24854 AgrOrtholog
COSMIC STBD1 COSMIC
Ensembl Genes ENSG00000118804 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000237642 ENTREZGENE
  ENSP00000237642.6 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000237642 ENTREZGENE
  ENST00000237642.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000118804 GTEx
HGNC ID HGNC:24854 ENTREZGENE
Human Proteome Map STBD1 Human Proteome Map
InterPro Carb-bd-like_fold UniProtKB/Swiss-Prot
  CBM20_genethonin_1 UniProtKB/Swiss-Prot
  CBM_fam20 UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
KEGG Report hsa:8987 UniProtKB/Swiss-Prot
NCBI Gene 8987 ENTREZGENE
OMIM 607406 OMIM
PANTHER STARCH-BINDING DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  STARCH-BINDING DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
Pfam CBM_20 UniProtKB/Swiss-Prot
PharmGKB PA162405002 PharmGKB
PROSITE CBM20 UniProtKB/Swiss-Prot
SMART CBM_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49452 UniProtKB/Swiss-Prot
UniProt B3KVZ9 ENTREZGENE
  O95210 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KVZ9 UniProtKB/Swiss-Prot