ASB14 (ankyrin repeat and SOCS box containing 14) - Rat Genome Database

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Gene: ASB14 (ankyrin repeat and SOCS box containing 14) Homo sapiens
Analyze
Symbol: ASB14
Name: ankyrin repeat and SOCS box containing 14
RGD ID: 1343044
HGNC Page HGNC:19766
Description: Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ankyrin repeat and SOCS box protein 14; ankyrin repeat and SOCS box-containing 14; ankyrin repeat domain-containing SOCS box protein Asb-14; DKFZp313L0121
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38357,268,342 - 57,292,685 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl357,268,342 - 57,292,685 (-)EnsemblGRCh38hg38GRCh38
GRCh37357,302,370 - 57,326,713 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,277,419 - 57,288,020 (-)NCBINCBI36Build 36hg18NCBI36
Build 34357,277,418 - 57,288,020NCBI
Celera357,267,953 - 57,292,330 (-)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef357,351,544 - 57,375,919 (-)NCBIHuRef
CHM1_1357,252,526 - 57,276,848 (-)NCBICHM1_1
T2T-CHM13v2.0357,308,608 - 57,332,970 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10737800   PMID:12076535   PMID:12477932   PMID:16325183   PMID:24337577   PMID:28514442   PMID:30759391   PMID:33961781  


Genomics

Comparative Map Data
ASB14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38357,268,342 - 57,292,685 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl357,268,342 - 57,292,685 (-)EnsemblGRCh38hg38GRCh38
GRCh37357,302,370 - 57,326,713 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,277,419 - 57,288,020 (-)NCBINCBI36Build 36hg18NCBI36
Build 34357,277,418 - 57,288,020NCBI
Celera357,267,953 - 57,292,330 (-)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef357,351,544 - 57,375,919 (-)NCBIHuRef
CHM1_1357,252,526 - 57,276,848 (-)NCBICHM1_1
T2T-CHM13v2.0357,308,608 - 57,332,970 (-)NCBIT2T-CHM13v2.0
Asb14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391426,616,547 - 26,638,393 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1426,616,514 - 26,637,215 (+)EnsemblGRCm39 Ensembl
GRCm381426,894,590 - 26,915,257 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1426,894,557 - 26,915,258 (+)EnsemblGRCm38mm10GRCm38
MGSCv371427,707,790 - 27,728,443 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361425,730,127 - 25,742,142 (+)NCBIMGSCv36mm8
Celera1423,133,157 - 23,154,948 (+)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1416.09NCBI
Asb14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8162,102,303 - 2,131,379 (+)NCBIGRCr8
mRatBN7.2162,095,567 - 2,123,259 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl162,095,644 - 2,115,135 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx162,102,250 - 2,121,773 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0163,247,937 - 3,267,460 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0162,108,637 - 2,127,986 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0162,537,209 - 2,556,930 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl162,537,248 - 2,556,735 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0162,511,969 - 2,531,658 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4162,162,243 - 2,175,971 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera162,063,524 - 2,083,013 (+)NCBICelera
Cytogenetic Map16p16NCBI
Asb14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554307,020,823 - 7,038,057 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554307,014,091 - 7,038,751 (-)NCBIChiLan1.0ChiLan1.0
ASB14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2257,241,429 - 57,260,549 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1357,246,640 - 57,265,321 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0357,209,408 - 57,225,472 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1358,418,243 - 58,434,409 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl358,418,243 - 58,434,409 (-)Ensemblpanpan1.1panPan2
ASB14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12033,110,930 - 33,137,249 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2033,110,992 - 33,133,695 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2033,038,555 - 33,065,206 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02033,383,368 - 33,410,033 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2033,383,438 - 33,408,610 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12032,832,425 - 32,859,045 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02033,190,899 - 33,217,541 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02033,361,952 - 33,388,842 (+)NCBIUU_Cfam_GSD_1.0
Asb14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118174,478,515 - 174,494,626 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364737,610,783 - 7,632,249 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364737,616,912 - 7,633,100 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASB14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1339,123,650 - 39,146,914 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11339,121,461 - 39,147,490 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ASB14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12218,595,768 - 18,613,583 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2218,596,107 - 18,612,536 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041148,257,866 - 148,274,769 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asb14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462482219,813 - 29,974 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASB14
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
NM_001142733.2(ASB14):c.1753G>A (p.Gly585Arg) single nucleotide variant Malignant melanoma [RCV000066164] Chr3:57276561 [GRCh38]
Chr3:57310589 [GRCh37]
Chr3:57285629 [NCBI36]
Chr3:3p14.3		 not provided
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001142733.3(ASB14):c.1517G>A (p.Arg506Gln) single nucleotide variant Inborn genetic diseases [RCV003249989] Chr3:57277835 [GRCh38]
Chr3:57311863 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001142733.3(ASB14):c.1018G>A (p.Val340Met) single nucleotide variant Inborn genetic diseases [RCV003240382] Chr3:57278790 [GRCh38]
Chr3:57312818 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1654C>T (p.Arg552Cys) single nucleotide variant Inborn genetic diseases [RCV003248542] Chr3:57276660 [GRCh38]
Chr3:57310688 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 copy number loss not provided [RCV000846379] Chr3:57076136..65716956 [GRCh37]
Chr3:3p14.3-14.1		 pathogenic
NM_012096.3(APPL1):c.2072G>A (p.Ser691Asn) single nucleotide variant Inborn genetic diseases [RCV002569256]|not provided [RCV001963910] Chr3:57269629 [GRCh38]
Chr3:57303657 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.478C>T (p.Arg160Cys) single nucleotide variant Inborn genetic diseases [RCV003274781] Chr3:57283431 [GRCh38]
Chr3:57317459 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1635C>G (p.Cys545Trp) single nucleotide variant Inborn genetic diseases [RCV003274927] Chr3:57276679 [GRCh38]
Chr3:57310707 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57130421)_(58520833_?)del deletion Pyruvate dehydrogenase E1-beta deficiency [RCV003105375] Chr3:57130421..58520833 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57130421)_(57303715_?)dup duplication Septo-optic dysplasia sequence [RCV003107767] Chr3:57130421..57303715 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.2099A>G (p.Glu700Gly) single nucleotide variant not provided [RCV001519700] Chr3:57269656 [GRCh38]
Chr3:57303684 [GRCh37]
Chr3:3p14.3		 benign
NM_001142733.3(ASB14):c.*190_*191insAATTC insertion not provided [RCV001618110] Chr3:57269450..57269451 [GRCh38]
Chr3:57303478..57303479 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1930_1933del (p.Glu643_Arg644insTer) microsatellite not provided [RCV001755359]|not specified [RCV001821996] Chr3:57268430..57268433 [GRCh38]
Chr3:57302458..57302461 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012096.3(APPL1):c.1961A>G (p.Asn654Ser) single nucleotide variant not provided [RCV001752913] Chr3:57268465 [GRCh38]
Chr3:57302493 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_012096.3(APPL1):c.2018C>G (p.Ser673Cys) single nucleotide variant not provided [RCV001885324]|not specified [RCV001817426] Chr3:57269575 [GRCh38]
Chr3:57303603 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.2127A>G (p.Ala709=) single nucleotide variant not provided [RCV001945665] Chr3:57269684 [GRCh38]
Chr3:57303712 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1926A>G (p.Ile642Met) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV002225187]|not provided [RCV003101285] Chr3:57268430 [GRCh38]
Chr3:57302458 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001142733.3(ASB14):c.*1147T>C single nucleotide variant not provided [RCV002178063] Chr3:57268494 [GRCh38]
Chr3:57302522 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001142733.3(ASB14):c.*120dup duplication not provided [RCV003120144] Chr3:57269520..57269521 [GRCh38]
Chr3:57303548..57303549 [GRCh37]
Chr3:3p14.3		 benign
NM_001142733.3(ASB14):c.479G>T (p.Arg160Leu) single nucleotide variant Inborn genetic diseases [RCV003304622] Chr3:57283430 [GRCh38]
Chr3:57317458 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.250A>C (p.Ile84Leu) single nucleotide variant Inborn genetic diseases [RCV003286170] Chr3:57288215 [GRCh38]
Chr3:57322243 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001142733.3(ASB14):c.1406C>T (p.Thr469Ile) single nucleotide variant Inborn genetic diseases [RCV002901692] Chr3:57278402 [GRCh38]
Chr3:57312430 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.743A>G (p.Asp248Gly) single nucleotide variant Inborn genetic diseases [RCV002902178] Chr3:57280446 [GRCh38]
Chr3:57314474 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1655G>A (p.Arg552His) single nucleotide variant Inborn genetic diseases [RCV002749611] Chr3:57276659 [GRCh38]
Chr3:57310687 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1429A>C (p.Lys477Gln) single nucleotide variant Inborn genetic diseases [RCV002684824] Chr3:57278379 [GRCh38]
Chr3:57312407 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1693C>T (p.Arg565Cys) single nucleotide variant Inborn genetic diseases [RCV002684747] Chr3:57276621 [GRCh38]
Chr3:57310649 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1693C>A (p.Arg565Ser) single nucleotide variant Inborn genetic diseases [RCV002703914] Chr3:57276621 [GRCh38]
Chr3:57310649 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.2046G>A (p.Glu682=) single nucleotide variant not provided [RCV003003077] Chr3:57269603 [GRCh38]
Chr3:57303631 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001142733.3(ASB14):c.1136G>C (p.Gly379Ala) single nucleotide variant Inborn genetic diseases [RCV002805073] Chr3:57278672 [GRCh38]
Chr3:57312700 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1481T>C (p.Val494Ala) single nucleotide variant Inborn genetic diseases [RCV002640886] Chr3:57277871 [GRCh38]
Chr3:57311899 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1573C>A (p.His525Asn) single nucleotide variant Inborn genetic diseases [RCV002786813] Chr3:57277779 [GRCh38]
Chr3:57311807 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.416A>G (p.Asn139Ser) single nucleotide variant Inborn genetic diseases [RCV002666416] Chr3:57287954 [GRCh38]
Chr3:57321982 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1451T>C (p.Leu484Ser) single nucleotide variant Inborn genetic diseases [RCV002826051] Chr3:57277901 [GRCh38]
Chr3:57311929 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1487G>A (p.Arg496Gln) single nucleotide variant Inborn genetic diseases [RCV002665160] Chr3:57277865 [GRCh38]
Chr3:57311893 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.863T>C (p.Val288Ala) single nucleotide variant Inborn genetic diseases [RCV002921279] Chr3:57280326 [GRCh38]
Chr3:57314354 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.709C>T (p.Arg237Trp) single nucleotide variant Inborn genetic diseases [RCV002989665] Chr3:57283200 [GRCh38]
Chr3:57317228 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1933G>C (p.Val645Leu) single nucleotide variant Inborn genetic diseases [RCV002879199] Chr3:57268437 [GRCh38]
Chr3:57302465 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1175T>C (p.Ile392Thr) single nucleotide variant Inborn genetic diseases [RCV002703066] Chr3:57278633 [GRCh38]
Chr3:57312661 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.634C>A (p.Gln212Lys) single nucleotide variant Inborn genetic diseases [RCV002898359] Chr3:57283275 [GRCh38]
Chr3:57317303 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.914C>T (p.Thr305Met) single nucleotide variant Inborn genetic diseases [RCV002935268] Chr3:57278894 [GRCh38]
Chr3:57312922 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.2111A>G (p.Lys704Arg) single nucleotide variant not provided [RCV002634573] Chr3:57269668 [GRCh38]
Chr3:57303696 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1742G>A (p.Gly581Glu) single nucleotide variant Inborn genetic diseases [RCV003189791] Chr3:57276572 [GRCh38]
Chr3:57310600 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1726G>A (p.Asp576Asn) single nucleotide variant Inborn genetic diseases [RCV003192774] Chr3:57276588 [GRCh38]
Chr3:57310616 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1010G>C (p.Gly337Ala) single nucleotide variant Inborn genetic diseases [RCV003193981] Chr3:57278798 [GRCh38]
Chr3:57312826 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.710G>A (p.Arg237Gln) single nucleotide variant Inborn genetic diseases [RCV003198600] Chr3:57283199 [GRCh38]
Chr3:57317227 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001142733.3(ASB14):c.158T>C (p.Ile53Thr) single nucleotide variant Inborn genetic diseases [RCV003180704] Chr3:57289088 [GRCh38]
Chr3:57323116 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.784C>G (p.Pro262Ala) single nucleotide variant Inborn genetic diseases [RCV003199603] Chr3:57280405 [GRCh38]
Chr3:57314433 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.849C>G (p.His283Gln) single nucleotide variant Inborn genetic diseases [RCV003360161] Chr3:57280340 [GRCh38]
Chr3:57314368 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.1087G>C (p.Ala363Pro) single nucleotide variant Inborn genetic diseases [RCV003376216] Chr3:57278721 [GRCh38]
Chr3:57312749 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.769G>A (p.Ala257Thr) single nucleotide variant Inborn genetic diseases [RCV003374623] Chr3:57280420 [GRCh38]
Chr3:57314448 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1 copy number loss not provided [RCV003485388] Chr3:56258725..57386154 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1898G>T (p.Arg633Leu) single nucleotide variant not provided [RCV003437882] Chr3:57268402 [GRCh38]
Chr3:57302430 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1898G>A (p.Arg633His) single nucleotide variant not provided [RCV003548759] Chr3:57268402 [GRCh38]
Chr3:57302430 [GRCh37]
Chr3:3p14.3		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
GRCh37/hg19 3p14.3(chr3:57186580-57384870)x1 copy number loss not specified [RCV003986464] Chr3:57186580..57384870 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1916A>G (p.Gln639Arg) single nucleotide variant not provided [RCV003822437] Chr3:57268420 [GRCh38]
Chr3:57302448 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_001142733.3(ASB14):c.*1149T>C single nucleotide variant APPL1-related condition [RCV003907137] Chr3:57268492 [GRCh38]
Chr3:57302520 [GRCh37]
Chr3:3p14.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1428
Count of miRNA genes:425
Interacting mature miRNAs:448
Transcripts:ENST00000389601, ENST00000487349, ENST00000515033
Prediction methods:Microtar, 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-77071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,307,260 - 57,307,424UniSTSGRCh37
Build 36357,282,300 - 57,282,464RGDNCBI36
Celera357,272,834 - 57,272,998RGD
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
HuRef357,356,425 - 57,356,589UniSTS
TNG Radiation Hybrid Map335438.0UniSTS
GeneMap99-GB4 RH Map3200.25UniSTS
Whitehead-RH Map3239.9UniSTS
RH99000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,304,106 - 57,304,272UniSTSGRCh37
Build 36357,279,146 - 57,279,312RGDNCBI36
Celera357,269,680 - 57,269,846RGD
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
HuRef357,353,271 - 57,353,437UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
D3S2814E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37357,303,601 - 57,303,690UniSTSGRCh37
Build 36357,278,641 - 57,278,730RGDNCBI36
Celera357,269,175 - 57,269,264RGD
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
HuRef357,352,766 - 57,352,855UniSTS


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
High
Medium 4 1 69 152 159 3 2 152
Low 2169 2003 1281 293 1043 139 4059 1814 2136 259 1344 1453 158 1 1152 2585 1
Below cutoff 254 976 426 311 823 308 142 214 1571 155 99 131 13 52 51 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000389601   ⟹   ENSP00000374252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,268,351 - 57,292,682 (-)Ensembl
RefSeq Acc Id: ENST00000487349   ⟹   ENSP00000419199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,268,342 - 57,292,685 (-)Ensembl
RefSeq Acc Id: ENST00000515033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl357,276,550 - 57,278,952 (-)Ensembl
RefSeq Acc Id: NM_001142733   ⟹   NP_001136205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,268,342 - 57,292,685 (-)NCBI
GRCh37357,302,379 - 57,326,753 (-)NCBI
Celera357,267,953 - 57,292,330 (-)RGD
HuRef357,351,544 - 57,375,919 (-)ENTREZGENE
CHM1_1357,252,526 - 57,276,848 (-)NCBI
T2T-CHM13v2.0357,308,608 - 57,332,970 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130387   ⟹   NP_569058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,268,351 - 57,278,952 (-)NCBI
GRCh37357,302,379 - 57,326,753 (-)NCBI
Build 36357,277,419 - 57,288,020 (-)NCBI Archive
Celera357,267,953 - 57,292,330 (-)RGD
HuRef357,351,544 - 57,375,919 (-)ENTREZGENE
CHM1_1357,252,526 - 57,263,126 (-)NCBI
T2T-CHM13v2.0357,308,617 - 57,319,223 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005736   ⟹   XP_016861225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,276,528 - 57,292,685 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005737   ⟹   XP_016861226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,276,528 - 57,292,685 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054345308   ⟹   XP_054201283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,316,796 - 57,332,970 (-)NCBI
RefSeq Acc Id: XM_054345309   ⟹   XP_054201284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,316,796 - 57,332,970 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001136205   ⟸   NM_001142733
- Peptide Label: isoform 1
- UniProtKB: Q92816 (UniProtKB/Swiss-Prot),   Q8WXK2 (UniProtKB/Swiss-Prot),   C9JX97 (UniProtKB/Swiss-Prot),   A6NK59 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_569058   ⟸   NM_130387
- Peptide Label: isoform 2 precursor
- UniProtKB: A6NK59 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861226   ⟸   XM_017005737
- Peptide Label: isoform X1
- UniProtKB: Q92816 (UniProtKB/Swiss-Prot),   Q8WXK2 (UniProtKB/Swiss-Prot),   C9JX97 (UniProtKB/Swiss-Prot),   A6NK59 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861225   ⟸   XM_017005736
- Peptide Label: isoform X1
- UniProtKB: Q92816 (UniProtKB/Swiss-Prot),   Q8WXK2 (UniProtKB/Swiss-Prot),   C9JX97 (UniProtKB/Swiss-Prot),   A6NK59 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000374252   ⟸   ENST00000389601
RefSeq Acc Id: ENSP00000419199   ⟸   ENST00000487349
RefSeq Acc Id: XP_054201284   ⟸   XM_054345309
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201283   ⟸   XM_054345308
- Peptide Label: isoform X1
Protein Domains
SOCS box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NK59-F1-model_v2 AlphaFold A6NK59 1-587 view protein structure

Promoters
RGD ID:6800637
Promoter ID:HG_KWN:45345
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_130387
Position:
Human AssemblyChrPosition (strand)Source
Build 36357,287,381 - 57,287,881 (-)MPROMDB
RGD ID:6864794
Promoter ID:EPDNEW_H5562
Type:multiple initiation site
Name:ASB14_1
Description:ankyrin repeat and SOCS box containing 14
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
GRCh38357,292,682 - 57,292,742EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19766 AgrOrtholog
COSMIC ASB14 COSMIC
Ensembl Genes ENSG00000239388 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000389601.3 UniProtKB/Swiss-Prot
  ENST00000487349 ENTREZGENE
  ENST00000487349.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS box UniProtKB/Swiss-Prot
GTEx ENSG00000239388 GTEx
HGNC ID HGNC:19766 ENTREZGENE
Human Proteome Map ASB14 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box UniProtKB/Swiss-Prot
  SOCS_box-like_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:142686 UniProtKB/Swiss-Prot
NCBI Gene 142686 ENTREZGENE
PANTHER ANK_REP_REGION DOMAIN-CONTAINING PROTEIN-RELATED UniProtKB/Swiss-Prot
  ANKYRIN REPEAT FAMILY PROTEIN UniProtKB/TrEMBL
  IQ MOTIF AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
  LD20463P-RELATED UniProtKB/Swiss-Prot
Pfam Ank UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box UniProtKB/Swiss-Prot
PharmGKB PA134983884 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS UniProtKB/Swiss-Prot
  SOCS_box UniProtKB/Swiss-Prot
Superfamily-SCOP SSF158235 UniProtKB/Swiss-Prot
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NK59 ENTREZGENE, UniProtKB/Swiss-Prot
  C9JX97 ENTREZGENE
  Q1RMF3_HUMAN UniProtKB/TrEMBL
  Q8WXK2 ENTREZGENE
  Q92816 ENTREZGENE
UniProt Secondary C9JX97 UniProtKB/Swiss-Prot
  Q8WXK2 UniProtKB/Swiss-Prot
  Q92816 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ASB14  ankyrin repeat and SOCS box containing 14  ASB14  ankyrin repeat and SOCS box-containing 14  Symbol and/or name change 5135510 APPROVED