ASB4 (ankyrin repeat and SOCS box containing 4) - Rat Genome Database

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Gene: ASB4 (ankyrin repeat and SOCS box containing 4) Homo sapiens
Analyze
Symbol: ASB4
Name: ankyrin repeat and SOCS box containing 4
RGD ID: 1348810
HGNC Page HGNC:16009
Description: Predicted to enable ubiquitin protein ligase binding activity and ubiquitin-protein transferase activity. Predicted to be involved in positive regulation of vasculogenesis and protein autoubiquitination. Part of Cul2-RING ubiquitin ligase complex and Cul5-RING ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ankyrin repeat and SOCS box protein 4; ankyrin repeat and SOCS box-containing 4; ASB-4; MGC142039; MGC142041
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
GRCh38795,470,656 - 95,551,317 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl795,478,444 - 95,540,233 (+)EnsemblGRCh38hg38GRCh38
GRCh37795,115,255 - 95,169,545 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36794,953,220 - 95,005,007 (+)NCBINCBI36Build 36hg18NCBI36
Build 34794,759,934 - 94,802,763NCBI
Celera789,814,002 - 89,865,786 (+)NCBICelera
Cytogenetic Map7q21.3NCBI
HuRef789,722,265 - 89,776,678 (+)NCBIHuRef
CHM1_1795,045,258 - 95,099,588 (+)NCBICHM1_1
T2T-CHM13v2.0796,722,134 - 96,790,011 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2794,444,224 - 94,498,555 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. 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:11076863   PMID:11111040   PMID:12076535   PMID:12477932   PMID:12690205   PMID:12853948   PMID:14702039   PMID:15929745   PMID:17276034   PMID:17636018   PMID:22939624   PMID:24337577  
PMID:24586788   PMID:26186194   PMID:28514442   PMID:28786561   PMID:29229926   PMID:29371260   PMID:32814053   PMID:33961781   PMID:39201703  


Genomics

Comparative Map Data
ASB4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38795,470,656 - 95,551,317 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl795,478,444 - 95,540,233 (+)EnsemblGRCh38hg38GRCh38
GRCh37795,115,255 - 95,169,545 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36794,953,220 - 95,005,007 (+)NCBINCBI36Build 36hg18NCBI36
Build 34794,759,934 - 94,802,763NCBI
Celera789,814,002 - 89,865,786 (+)NCBICelera
Cytogenetic Map7q21.3NCBI
HuRef789,722,265 - 89,776,678 (+)NCBIHuRef
CHM1_1795,045,258 - 95,099,588 (+)NCBICHM1_1
T2T-CHM13v2.0796,722,134 - 96,790,011 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2794,444,224 - 94,498,555 (+)NCBI
Asb4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3965,383,386 - 5,433,022 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl65,383,386 - 5,433,022 (+)EnsemblGRCm39 Ensembl
GRCm3865,383,386 - 5,433,022 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl65,383,386 - 5,433,022 (+)EnsemblGRCm38mm10GRCm38
MGSCv3765,333,386 - 5,383,022 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3665,333,386 - 5,383,022 (+)NCBIMGSCv36mm8
Celera65,532,909 - 5,582,551 (+)NCBICelera
Cytogenetic Map6A1NCBI
cM Map61.99NCBI
Asb4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8434,473,527 - 34,511,163 (+)NCBIGRCr8
mRatBN7.2433,506,992 - 33,544,630 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl433,506,992 - 33,544,630 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx438,466,026 - 38,503,652 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0434,392,177 - 34,429,805 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0432,801,950 - 32,839,584 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0430,461,673 - 30,501,340 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl430,313,102 - 30,501,329 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0430,369,302 - 30,408,933 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4430,150,502 - 30,188,132 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera429,034,019 - 29,071,609 (+)NCBICelera
Cytogenetic Map4q21NCBI
Asb4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543212,078,090 - 12,139,264 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543212,078,104 - 12,137,988 (+)NCBIChiLan1.0ChiLan1.0
ASB4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26113,328,179 - 113,382,397 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17161,592,818 - 161,646,986 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0787,443,445 - 87,497,640 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17101,031,050 - 101,085,009 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7101,030,584 - 101,085,009 (+)Ensemblpanpan1.1panPan2
ASB4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11420,733,592 - 20,794,394 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1420,733,436 - 20,792,082 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1420,292,553 - 20,353,066 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01420,555,776 - 20,616,422 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1420,555,504 - 20,614,456 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11420,700,599 - 20,760,938 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01420,435,515 - 20,496,059 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01420,692,985 - 20,753,784 (+)NCBIUU_Cfam_GSD_1.0
Asb4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511834,049,708 - 34,107,135 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365854,755,071 - 4,813,555 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365854,754,989 - 4,813,431 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASB4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl975,018,067 - 75,203,447 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1975,110,367 - 75,337,619 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2982,483,124 - 82,581,580 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASB4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12153,497,078 - 53,551,149 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2153,496,860 - 53,550,837 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604250,795,269 - 50,849,160 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asb4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248132,150,750 - 2,226,528 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248132,150,800 - 2,226,481 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASB4
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1 copy number loss Split hand-foot malformation 1 [RCV000656540] Chr7:92445452..99686985 [GRCh37]
Chr7:7q21.2-22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
NM_016116.2(ASB4):c.1213C>T (p.Pro405Ser) single nucleotide variant Malignant melanoma [RCV000068019] Chr7:95537691 [GRCh38]
Chr7:95167003 [GRCh37]
Chr7:95004939 [NCBI36]
Chr7:7q21.3		 not provided
NM_016116.2(ASB4):c.1229C>T (p.Pro410Leu) single nucleotide variant Malignant melanoma [RCV000068020] Chr7:95537707 [GRCh38]
Chr7:95167019 [GRCh37]
Chr7:95004955 [NCBI36]
Chr7:7q21.3		 not provided
NM_016116.2(ASB4):c.488-9900T>C single nucleotide variant Lung cancer [RCV000106698] Chr7:95517913 [GRCh38]
Chr7:95147225 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1 copy number loss See cases [RCV000135435] Chr7:95127070..97873487 [GRCh38]
Chr7:94756382..97502799 [GRCh37]
Chr7:94594318..97340735 [NCBI36]
Chr7:7q21.3		 pathogenic
GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1 copy number loss See cases [RCV000141756] Chr7:92759144..97568646 [GRCh38]
Chr7:92388458..97197958 [GRCh37]
Chr7:92226394..97035894 [NCBI36]
Chr7:7q21.2-21.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.3(chr7:94309218-95455621)x3 copy number gain See cases [RCV000448904] Chr7:94309218..95455621 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1 copy number loss not provided [RCV000682901] Chr7:93285237..96280817 [GRCh37]
Chr7:7q21.3		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.3(chr7:93700162-96950914)x1 copy number loss not provided [RCV000746898] Chr7:93700162..96950914 [GRCh37]
Chr7:7q21.3		 pathogenic
GRCh37/hg19 7q21.3(chr7:95085553-95325141)x3 copy number gain not provided [RCV000746900] Chr7:95085553..95325141 [GRCh37]
Chr7:7q21.3		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_016116.3(ASB4):c.356A>G (p.Asn119Ser) single nucleotide variant not specified [RCV004284621] Chr7:95495926 [GRCh38]
Chr7:95125238 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7q21.3(chr7:95151657-95302082)x1 copy number loss not provided [RCV001005987] Chr7:95151657..95302082 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.544G>A (p.Ala182Thr) single nucleotide variant not specified [RCV004305011] Chr7:95527869 [GRCh38]
Chr7:95157181 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7q21.3(chr7:93516132-95668733) copy number loss Myoclonic dystonia 11 [RCV001254167] Chr7:93516132..95668733 [GRCh37]
Chr7:7q21.3		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1		 pathogenic
GRCh37/hg19 7q21.3(chr7:94309218-95455621) copy number gain not specified [RCV002053710] Chr7:94309218..95455621 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1 copy number loss not provided [RCV002474498] Chr7:92721627..98311537 [GRCh37]
Chr7:7q21.2-22.1		 pathogenic
NM_016116.3(ASB4):c.445A>G (p.Thr149Ala) single nucleotide variant not specified [RCV004111600] Chr7:95496015 [GRCh38]
Chr7:95125327 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.1075C>A (p.Pro359Thr) single nucleotide variant not specified [RCV004154902] Chr7:95536533 [GRCh38]
Chr7:95165845 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.895C>T (p.Arg299Cys) single nucleotide variant not specified [RCV004102933] Chr7:95528220 [GRCh38]
Chr7:95157532 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.1133G>A (p.Cys378Tyr) single nucleotide variant not specified [RCV004238279] Chr7:95537611 [GRCh38]
Chr7:95166923 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.1250T>C (p.Leu417Ser) single nucleotide variant not specified [RCV004210736] Chr7:95537728 [GRCh38]
Chr7:95167040 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.1273A>G (p.Ile425Val) single nucleotide variant not specified [RCV004164240] Chr7:95537751 [GRCh38]
Chr7:95167063 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.518A>G (p.Gln173Arg) single nucleotide variant not specified [RCV004211014] Chr7:95527843 [GRCh38]
Chr7:95157155 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.53A>C (p.Lys18Thr) single nucleotide variant not specified [RCV004100723] Chr7:95486024 [GRCh38]
Chr7:95115336 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.913G>A (p.Glu305Lys) single nucleotide variant not specified [RCV004123002] Chr7:95528238 [GRCh38]
Chr7:95157550 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.995A>G (p.His332Arg) single nucleotide variant not specified [RCV004138622] Chr7:95536453 [GRCh38]
Chr7:95165765 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.159G>T (p.Glu53Asp) single nucleotide variant not specified [RCV004155415] Chr7:95486130 [GRCh38]
Chr7:95115442 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.692A>C (p.His231Pro) single nucleotide variant not specified [RCV004177675] Chr7:95528017 [GRCh38]
Chr7:95157329 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.172G>A (p.Ala58Thr) single nucleotide variant not specified [RCV004086739] Chr7:95486143 [GRCh38]
Chr7:95115455 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.842T>C (p.Met281Thr) single nucleotide variant not specified [RCV004268860] Chr7:95528167 [GRCh38]
Chr7:95157479 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.267A>C (p.Glu89Asp) single nucleotide variant not specified [RCV004274714] Chr7:95495837 [GRCh38]
Chr7:95125149 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.221C>T (p.Ser74Phe) single nucleotide variant not specified [RCV004358191] Chr7:95495791 [GRCh38]
Chr7:95125103 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.83A>G (p.Asn28Ser) single nucleotide variant not specified [RCV004341349] Chr7:95486054 [GRCh38]
Chr7:95115366 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1 copy number loss not provided [RCV003482969] Chr7:94813388..96264152 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_016116.3(ASB4):c.1085A>G (p.Asp362Gly) single nucleotide variant not specified [RCV004420592] Chr7:95536543 [GRCh38]
Chr7:95165855 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.1100G>T (p.Trp367Leu) single nucleotide variant not specified [RCV004420593] Chr7:95537578 [GRCh38]
Chr7:95166890 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.591C>G (p.His197Gln) single nucleotide variant not specified [RCV004420596] Chr7:95527916 [GRCh38]
Chr7:95157228 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.1198T>A (p.Cys400Ser) single nucleotide variant not specified [RCV004420594] Chr7:95537676 [GRCh38]
Chr7:95166988 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.764C>G (p.Pro255Arg) single nucleotide variant not specified [RCV004420597] Chr7:95528089 [GRCh38]
Chr7:95157401 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.37G>A (p.Ala13Thr) single nucleotide variant not specified [RCV004420595] Chr7:95486008 [GRCh38]
Chr7:95115320 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.926A>G (p.Gln309Arg) single nucleotide variant not specified [RCV004420599] Chr7:95528251 [GRCh38]
Chr7:95157563 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.795C>A (p.His265Gln) single nucleotide variant not specified [RCV004420598] Chr7:95528120 [GRCh38]
Chr7:95157432 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.290A>G (p.His97Arg) single nucleotide variant not specified [RCV004667139] Chr7:95495860 [GRCh38]
Chr7:95125172 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.103G>T (p.Ala35Ser) single nucleotide variant not specified [RCV004665983] Chr7:95486074 [GRCh38]
Chr7:95115386 [GRCh37]
Chr7:7q21.3		 uncertain significance
NC_000007.13:g.(?_94024344)_(100860555_?)del deletion not provided [RCV004578536] Chr7:94024344..100860555 [GRCh37]
Chr7:7q21.3-22.1		 pathogenic
NM_016116.3(ASB4):c.593G>A (p.Gly198Glu) single nucleotide variant not specified [RCV004665992] Chr7:95527918 [GRCh38]
Chr7:95157230 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.706C>T (p.Arg236Cys) single nucleotide variant not specified [RCV004665998] Chr7:95528031 [GRCh38]
Chr7:95157343 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_016116.3(ASB4):c.617C>T (p.Ala206Val) single nucleotide variant not specified [RCV004667138] Chr7:95527942 [GRCh38]
Chr7:95157254 [GRCh37]
Chr7:7q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:974
Count of miRNA genes:693
Interacting mature miRNAs:776
Transcripts:ENST00000257621, ENST00000325885, ENST00000428113
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407213221GWAS862197_Hgrip strength measurement QTL GWAS862197 (human)0.000002grip strength measurement79552413795524138Human
407107207GWAS756183_Hself reported educational attainment QTL GWAS756183 (human)2e-09self reported educational attainment79550944395509444Human
407033092GWAS682068_Hchildhood aggressive behaviour measurement QTL GWAS682068 (human)0.000008childhood aggressive behaviour measurement79548839195488392Human
406901352GWAS550328_Hsmoking behavior, body mass index QTL GWAS550328 (human)0.0000007smoking behavior, body mass indexbody mass index (BMI) (CMO:0000105)79554020295540203Human
406901353GWAS550329_Hsmoking behavior, body mass index QTL GWAS550329 (human)0.000002body mass indexbody mass index (BMI) (CMO:0000105)79554020295540203Human
406959851GWAS608827_Hprogression free survival, response to carboplatin, ovarian serous carcinoma, trait in response to paclitaxel QTL GWAS608827 (human)0.000008progression free survival, response to carboplatin, ovarian serous carcinoma, trait in response to paclitaxelsurvival measurement (CMO:0001021)79551550995515510Human
406901675GWAS550651_Heducational attainment QTL GWAS550651 (human)3e-13educational attainment79550944395509444Human
407016590GWAS665566_Hirritable bowel syndrome QTL GWAS665566 (human)0.000003irritable bowel syndrome79550190595501906Human
406988174GWAS637150_Hintelligence QTL GWAS637150 (human)0.000006intelligence79550944395509444Human
406897135GWAS546111_Hsmoking behavior, body mass index QTL GWAS546111 (human)0.0000008smoking behavior, body mass indexbody mass index (BMI) (CMO:0000105)79554020295540203Human
406897136GWAS546112_Hsmoking behavior, body mass index QTL GWAS546112 (human)0.0000006smoking behavior, body mass indexbody mass index (BMI) (CMO:0000105)79554020295540203Human
407007632GWAS656608_Hbody mass index QTL GWAS656608 (human)0.000001body mass indexbody mass index (BMI) (CMO:0000105)79554020295540203Human
407213215GWAS862191_Hgrip strength measurement QTL GWAS862191 (human)0.0000002grip strength measurement79552413795524138Human
407103832GWAS752808_Hmathematical ability QTL GWAS752808 (human)5e-09mathematical ability79550944395509444Human
407213209GWAS862185_Hgrip strength measurement QTL GWAS862185 (human)2e-08grip strength measurement79552413795524138Human
406891196GWAS540172_Hbody mass index QTL GWAS540172 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)79554020295540203Human
406950109GWAS599085_Hbody mass index QTL GWAS599085 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)79554020295540203Human
407110618GWAS759594_Hmathematical ability QTL GWAS759594 (human)2e-11mathematical ability79550944395509444Human
407307833GWAS956809_Hsmoking initiation QTL GWAS956809 (human)3e-10smoking initiation79550944395509444Human

Markers in Region
D7S2482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37795,122,735 - 95,122,956UniSTSGRCh37
GRCh37795,122,635 - 95,122,794UniSTSGRCh37
Build 36794,960,571 - 94,960,730RGDNCBI36
Celera789,821,353 - 89,821,512RGD
Celera789,821,453 - 89,821,674UniSTS
Cytogenetic Map7q21-q22UniSTS
HuRef789,729,687 - 89,729,846UniSTS
HuRef789,729,787 - 89,730,008UniSTS
CRA_TCAGchr7v2794,451,646 - 94,451,805UniSTS
CRA_TCAGchr7v2794,451,746 - 94,451,967UniSTS
Marshfield Genetic Map7108.59UniSTS
Marshfield Genetic Map7108.59RGD
Genethon Genetic Map7109.0UniSTS
TNG Radiation Hybrid Map741450.0UniSTS
deCODE Assembly Map7106.06UniSTS
Stanford-G3 RH Map74487.0UniSTS
NCBI RH Map71052.7UniSTS
GeneMap99-G3 RH Map74487.0UniSTS
D7S2431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37795,142,794 - 95,142,936UniSTSGRCh37
GRCh37795,142,584 - 95,142,699UniSTSGRCh37
GRCh379104,293,142 - 104,293,303UniSTSGRCh37
Build 36794,980,520 - 94,980,635RGDNCBI36
Celera974,807,397 - 74,807,558UniSTS
Celera789,841,510 - 89,841,652UniSTS
Celera789,841,294 - 89,841,415RGD
Cytogenetic Map7q21-q22UniSTS
HuRef789,749,847 - 89,749,989UniSTS
HuRef789,749,631 - 89,749,752UniSTS
CRA_TCAGchr7v2794,471,587 - 94,471,702UniSTS
CRA_TCAGchr7v2794,471,797 - 94,471,939UniSTS
Marshfield Genetic Map7108.59UniSTS
Marshfield Genetic Map7108.59RGD
Genethon Genetic Map7109.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
G42093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37795,118,455 - 95,118,756UniSTSGRCh37
Build 36794,956,391 - 94,956,692RGDNCBI36
Celera789,817,173 - 89,817,474RGD
Cytogenetic Map7q21-q22UniSTS
HuRef789,725,507 - 89,725,808UniSTS
CRA_TCAGchr7v2794,447,466 - 94,447,767UniSTS
ASB4_8047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37795,157,302 - 95,157,772UniSTSGRCh37
Build 36794,995,238 - 94,995,708RGDNCBI36
Celera789,856,017 - 89,856,487RGD
HuRef789,764,366 - 89,764,836UniSTS
CRA_TCAGchr7v2794,486,316 - 94,486,786UniSTS
MARC_51748-51749:1152645132:4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37795,157,136 - 95,157,611UniSTSGRCh37
Celera789,855,851 - 89,856,326UniSTS
HuRef789,764,200 - 89,764,675UniSTS
CRA_TCAGchr7v2794,486,150 - 94,486,625UniSTS
D7S2482  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q21-q22UniSTS
D7S2431  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q21-q22UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1179 2269 2546 1778 4787 1692 2257 3 603 848 448 2121 5560 4797 40 3679 731 1599 1553 164

Sequence


Ensembl Acc Id: ENST00000257621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl795,478,444 - 95,496,182 (+)Ensembl
Ensembl Acc Id: ENST00000325885   ⟹   ENSP00000321388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl795,485,943 - 95,540,233 (+)Ensembl
Ensembl Acc Id: ENST00000428113   ⟹   ENSP00000397070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl795,485,901 - 95,528,801 (+)Ensembl
RefSeq Acc Id: NM_016116   ⟹   NP_057200
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38795,485,943 - 95,540,233 (+)NCBI
GRCh37795,115,213 - 95,169,543 (+)ENTREZGENE
Build 36794,953,220 - 95,005,007 (+)NCBI Archive
Celera789,814,002 - 89,865,786 (+)RGD
HuRef789,722,265 - 89,776,678 (+)ENTREZGENE
CHM1_1795,045,258 - 95,099,588 (+)NCBI
T2T-CHM13v2.0796,722,134 - 96,776,389 (+)NCBI
CRA_TCAGchr7v2794,444,224 - 94,498,555 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_145872   ⟹   NP_665879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38795,485,943 - 95,528,801 (+)NCBI
GRCh37795,115,213 - 95,169,543 (+)ENTREZGENE
Build 36794,953,220 - 94,996,049 (+)NCBI Archive
Celera789,814,002 - 89,865,786 (+)RGD
HuRef789,722,265 - 89,776,678 (+)ENTREZGENE
CHM1_1795,045,258 - 95,088,158 (+)NCBI
T2T-CHM13v2.0796,722,134 - 96,764,958 (+)NCBI
CRA_TCAGchr7v2794,444,224 - 94,498,555 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017012303   ⟹   XP_016867792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38795,485,943 - 95,551,317 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047420471   ⟹   XP_047276427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38795,470,656 - 95,540,233 (+)NCBI
RefSeq Acc Id: XM_054358389   ⟹   XP_054214364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0796,722,134 - 96,790,011 (+)NCBI
RefSeq Acc Id: NP_057200   ⟸   NM_016116
- Peptide Label: isoform a
- UniProtKB: Q14D68 (UniProtKB/Swiss-Prot),   O14586 (UniProtKB/Swiss-Prot),   A4D1H6 (UniProtKB/Swiss-Prot),   Q8TBT2 (UniProtKB/Swiss-Prot),   Q9Y574 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_665879   ⟸   NM_145872
- Peptide Label: isoform b
- UniProtKB: Q9Y574 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016867792   ⟸   XM_017012303
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000397070   ⟸   ENST00000428113
Ensembl Acc Id: ENSP00000321388   ⟸   ENST00000325885
RefSeq Acc Id: XP_047276427   ⟸   XM_047420471
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054214364   ⟸   XM_054358389
- Peptide Label: isoform X1
Protein Domains
SOCS box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y574-F1-model_v2 AlphaFold Q9Y574 1-426 view protein structure

Promoters
RGD ID:7211123
Promoter ID:EPDNEW_H11307
Type:multiple initiation site
Name:ASB4_2
Description:ankyrin repeat and SOCS box containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11308  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38795,476,176 - 95,476,236EPDNEW
RGD ID:7211125
Promoter ID:EPDNEW_H11308
Type:initiation region
Name:ASB4_1
Description:ankyrin repeat and SOCS box containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11307  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38795,485,943 - 95,486,003EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16009 AgrOrtholog
COSMIC ASB4 COSMIC
Ensembl Genes ENSG00000005981 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000325885 ENTREZGENE
  ENST00000325885.6 UniProtKB/Swiss-Prot
  ENST00000428113 ENTREZGENE
  ENST00000428113.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
  SOCS box UniProtKB/Swiss-Prot
GTEx ENSG00000005981 GTEx
HGNC ID HGNC:16009 ENTREZGENE
Human Proteome Map ASB4 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
  SOCS_box UniProtKB/Swiss-Prot
  SOCS_box-like_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:51666 UniProtKB/Swiss-Prot
NCBI Gene 51666 ENTREZGENE
OMIM 605761 OMIM
PANTHER CHARON UniProtKB/Swiss-Prot
  POTE ANKYRIN DOMAIN UniProtKB/Swiss-Prot
Pfam Ank UniProtKB/Swiss-Prot
  Ank_2 UniProtKB/Swiss-Prot
  Ank_4 UniProtKB/Swiss-Prot
  SOCS_box UniProtKB/Swiss-Prot
PharmGKB PA25032 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
  SOCS UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
  SOCS_box UniProtKB/Swiss-Prot
Superfamily-SCOP SSF158235 UniProtKB/Swiss-Prot
  SSF48403 UniProtKB/Swiss-Prot
UniProt A4D1H6 ENTREZGENE
  ASB4_HUMAN UniProtKB/Swiss-Prot
  O14586 ENTREZGENE
  Q14D68 ENTREZGENE
  Q8TBT2 ENTREZGENE
  Q9Y574 ENTREZGENE
UniProt Secondary A4D1H6 UniProtKB/Swiss-Prot
  O14586 UniProtKB/Swiss-Prot
  Q14D68 UniProtKB/Swiss-Prot
  Q8TBT2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ASB4  ankyrin repeat and SOCS box containing 4  ASB4  ankyrin repeat and SOCS box-containing 4  Symbol and/or name change 5135510 APPROVED