SOWAHB (sosondowah ankyrin repeat domain family member B) - Rat Genome Database

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Gene: SOWAHB (sosondowah ankyrin repeat domain family member B) Homo sapiens
Analyze
Symbol: SOWAHB
Name: sosondowah ankyrin repeat domain family member B
RGD ID: 1605533
HGNC Page HGNC:32958
Description: INTERACTS WITH 17beta-estradiol; aflatoxin B1; arsane
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ANKRD56; ankyrin repeat domain 56; ankyrin repeat domain-containing protein 56; ankyrin repeat domain-containing protein SOWAHB; protein sosondowah homolog B
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
GRCh38476,894,152 - 76,898,144 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl476,894,152 - 76,898,144 (-)EnsemblGRCh38hg38GRCh38
GRCh37477,815,305 - 77,819,297 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36478,035,106 - 78,038,026 (-)NCBINCBI36Build 36hg18NCBI36
Celera475,117,434 - 75,120,354 (-)NCBICelera
Cytogenetic Map4q21.1NCBI
HuRef473,568,396 - 73,571,316 (-)NCBIHuRef
CHM1_1477,792,588 - 77,795,508 (-)NCBICHM1_1
T2T-CHM13v2.0480,234,914 - 80,238,906 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10431175   PMID:12219834   PMID:12477932   PMID:15152081   PMID:17176038   PMID:22234889   PMID:27669027   PMID:30631154   PMID:32296183   PMID:32694731   PMID:33110456   PMID:33961781  
PMID:35748872  


Genomics

Comparative Map Data
SOWAHB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38476,894,152 - 76,898,144 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl476,894,152 - 76,898,144 (-)EnsemblGRCh38hg38GRCh38
GRCh37477,815,305 - 77,819,297 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36478,035,106 - 78,038,026 (-)NCBINCBI36Build 36hg18NCBI36
Celera475,117,434 - 75,120,354 (-)NCBICelera
Cytogenetic Map4q21.1NCBI
HuRef473,568,396 - 73,571,316 (-)NCBIHuRef
CHM1_1477,792,588 - 77,795,508 (-)NCBICHM1_1
T2T-CHM13v2.0480,234,914 - 80,238,906 (-)NCBIT2T-CHM13v2.0
Sowahb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39593,188,981 - 93,192,910 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl593,188,982 - 93,192,881 (-)EnsemblGRCm39 Ensembl
GRCm38593,041,123 - 93,045,022 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl593,041,123 - 93,045,022 (-)EnsemblGRCm38mm10GRCm38
MGSCv37593,470,149 - 93,474,048 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36594,116,375 - 94,120,155 (-)NCBIMGSCv36mm8
Celera591,194,083 - 91,197,982 (-)NCBICelera
Cytogenetic Map5E2NCBI
cM Map547.29NCBI
Sowahb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81415,313,561 - 15,317,396 (+)NCBIGRCr8
mRatBN7.21415,029,203 - 15,033,038 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1415,029,395 - 15,031,698 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1415,038,041 - 15,041,876 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01416,357,056 - 16,360,891 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01415,052,292 - 15,056,127 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01416,491,023 - 16,495,764 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1416,491,573 - 16,493,876 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01416,417,015 - 16,421,756 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41416,587,783 - 16,590,086 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11416,587,782 - 16,590,086 (+)NCBI
Celera1414,431,239 - 14,435,980 (+)NCBICelera
Cytogenetic Map14p22NCBI
Sowahb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554331,539,001 - 1,541,370 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554331,537,658 - 1,541,574 (-)NCBIChiLan1.0ChiLan1.0
SOWAHB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2353,169,135 - 53,180,147 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1453,357,354 - 53,374,524 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0447,256,096 - 47,317,472 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1453,142,782 - 53,156,323 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl453,144,284 - 53,146,343 (+)Ensemblpanpan1.1panPan2
SOWAHB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1321,473,709 - 1,476,660 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl321,474,316 - 1,476,535 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3240,409,534 - 40,412,391 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0321,497,526 - 1,500,406 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl321,498,144 - 1,500,379 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1321,495,048 - 1,497,905 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0321,450,923 - 1,453,790 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03238,721,951 - 38,724,808 (+)NCBIUU_Cfam_GSD_1.0
Sowahb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528510,699,976 - 10,703,776 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936676804,782 - 807,112 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936676804,411 - 807,653 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOWAHB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl872,539,307 - 72,543,298 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1872,538,804 - 72,543,316 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2876,737,802 - 76,742,371 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SOWAHB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1725,389,247 - 25,400,161 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl725,397,385 - 25,399,766 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660373,742,522 - 3,753,488 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sowahb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475714,104,865 - 14,107,099 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475714,104,605 - 14,108,490 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SOWAHB
32 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
NM_001029870.1(SOWAHB):c.1612G>A (p.Ala538Thr) single nucleotide variant Malignant melanoma [RCV000066542] Chr4:76896238 [GRCh38]
Chr4:77817391 [GRCh37]
Chr4:78036415 [NCBI36]
Chr4:4q21.1		 not provided
NM_001029870.1(SOWAHB):c.1546G>A (p.Asp516Asn) single nucleotide variant Malignant melanoma [RCV000066543] Chr4:76896304 [GRCh38]
Chr4:77817457 [GRCh37]
Chr4:78036481 [NCBI36]
Chr4:4q21.1		 not provided
NM_001029870.1(SOWAHB):c.1194G>A (p.Val398=) single nucleotide variant Malignant melanoma [RCV000066544] Chr4:76896656 [GRCh38]
Chr4:77817809 [GRCh37]
Chr4:78036833 [NCBI36]
Chr4:4q21.1		 not provided
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
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
NM_001029870.3(SOWAHB):c.1802T>C (p.Ile601Thr) single nucleotide variant not specified [RCV004289810] Chr4:76896048 [GRCh38]
Chr4:77817201 [GRCh37]
Chr4:4q21.1		 uncertain significance
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 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 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23		 pathogenic
NM_001029870.3(SOWAHB):c.2379C>A (p.Asp793Glu) single nucleotide variant not provided [RCV000903275] Chr4:76895471 [GRCh38]
Chr4:77816624 [GRCh37]
Chr4:4q21.1		 benign
GRCh37/hg19 4q21.1(chr4:77278194-78393601)x3 copy number gain not provided [RCV000848750] Chr4:77278194..78393601 [GRCh37]
Chr4:4q21.1		 uncertain significance
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 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21		 pathogenic
GRCh37/hg19 4q21.1(chr4:77242490-78093831)x1 copy number loss not provided [RCV001005561] Chr4:77242490..78093831 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.232A>G (p.Arg78Gly) single nucleotide variant not specified [RCV004319107] Chr4:76897618 [GRCh38]
Chr4:77818771 [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
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
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
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 4q21.1(chr4:77748985-77883542)x1 copy number loss not provided [RCV000846460] Chr4:77748985..77883542 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4q21.1(chr4:77278194-78393601)x3 copy number gain not provided [RCV000846115] Chr4:77278194..78393601 [GRCh37]
Chr4:4q21.1		 uncertain significance
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
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 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
NM_001029870.3(SOWAHB):c.680G>C (p.Arg227Pro) single nucleotide variant not specified [RCV004222102] Chr4:76897170 [GRCh38]
Chr4:77818323 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.371G>A (p.Arg124Gln) single nucleotide variant not specified [RCV004146044] Chr4:76897479 [GRCh38]
Chr4:77818632 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.253G>A (p.Gly85Arg) single nucleotide variant not specified [RCV004135631] Chr4:76897597 [GRCh38]
Chr4:77818750 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.2372A>G (p.Tyr791Cys) single nucleotide variant not specified [RCV004198948] Chr4:76895478 [GRCh38]
Chr4:77816631 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.553G>A (p.Ala185Thr) single nucleotide variant not specified [RCV004178152] Chr4:76897297 [GRCh38]
Chr4:77818450 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.557G>A (p.Ser186Asn) single nucleotide variant not specified [RCV004204164] Chr4:76897293 [GRCh38]
Chr4:77818446 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.2203T>C (p.Tyr735His) single nucleotide variant not specified [RCV004106842] Chr4:76895647 [GRCh38]
Chr4:77816800 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.665A>G (p.Glu222Gly) single nucleotide variant not specified [RCV004105716] Chr4:76897185 [GRCh38]
Chr4:77818338 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.1580C>T (p.Pro527Leu) single nucleotide variant not specified [RCV004129306] Chr4:76896270 [GRCh38]
Chr4:77817423 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.499C>T (p.Pro167Ser) single nucleotide variant not specified [RCV004217685] Chr4:76897351 [GRCh38]
Chr4:77818504 [GRCh37]
Chr4:4q21.1		 likely benign
NM_001029870.3(SOWAHB):c.430G>A (p.Ala144Thr) single nucleotide variant not specified [RCV004206868] Chr4:76897420 [GRCh38]
Chr4:77818573 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.2026C>G (p.Leu676Val) single nucleotide variant not specified [RCV004168465] Chr4:76895824 [GRCh38]
Chr4:77816977 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.754G>A (p.Val252Met) single nucleotide variant not specified [RCV004215836] Chr4:76897096 [GRCh38]
Chr4:77818249 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.2345T>G (p.Phe782Cys) single nucleotide variant not specified [RCV004189094] Chr4:76895505 [GRCh38]
Chr4:77816658 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.2365G>C (p.Glu789Gln) single nucleotide variant not specified [RCV004147200] Chr4:76895485 [GRCh38]
Chr4:77816638 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.2240C>A (p.Ala747Asp) single nucleotide variant not specified [RCV004168466] Chr4:76895610 [GRCh38]
Chr4:77816763 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.454G>A (p.Asp152Asn) single nucleotide variant not specified [RCV004077877] Chr4:76897396 [GRCh38]
Chr4:77818549 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.722G>A (p.Arg241Gln) single nucleotide variant not specified [RCV004089694] Chr4:76897128 [GRCh38]
Chr4:77818281 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.1097C>G (p.Pro366Arg) single nucleotide variant not specified [RCV004265888] Chr4:76896753 [GRCh38]
Chr4:77817906 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.125G>A (p.Ser42Asn) single nucleotide variant not specified [RCV004339705] Chr4:76897725 [GRCh38]
Chr4:77818878 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.2369A>T (p.Glu790Val) single nucleotide variant not specified [RCV004342468] Chr4:76895481 [GRCh38]
Chr4:77816634 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1 copy number loss not specified [RCV003986507] Chr4:74822261..79345650 [GRCh37]
Chr4:4q13.3-21.21		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_001029870.3(SOWAHB):c.535G>T (p.Ala179Ser) single nucleotide variant not specified [RCV004457516] Chr4:76897315 [GRCh38]
Chr4:77818468 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.1607G>A (p.Gly536Glu) single nucleotide variant not specified [RCV004457509] Chr4:76896243 [GRCh38]
Chr4:77817396 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.130C>T (p.His44Tyr) single nucleotide variant not specified [RCV004457508] Chr4:76897720 [GRCh38]
Chr4:77818873 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.1857C>A (p.Asp619Glu) single nucleotide variant not specified [RCV004457511] Chr4:76895993 [GRCh38]
Chr4:77817146 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.696G>T (p.Gln232His) single nucleotide variant not specified [RCV004457517] Chr4:76897154 [GRCh38]
Chr4:77818307 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.1987G>A (p.Val663Ile) single nucleotide variant not specified [RCV004160881] Chr4:76895863 [GRCh38]
Chr4:77817016 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.1984G>A (p.Asp662Asn) single nucleotide variant not specified [RCV004253961] Chr4:76895866 [GRCh38]
Chr4:77817019 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.2182G>T (p.Gly728Cys) single nucleotide variant not specified [RCV004341746] Chr4:76895668 [GRCh38]
Chr4:77816821 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.1362C>A (p.Ser454Arg) single nucleotide variant not specified [RCV004353354] Chr4:76896488 [GRCh38]
Chr4:77817641 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.1741C>T (p.His581Tyr) single nucleotide variant not specified [RCV004457510] Chr4:76896109 [GRCh38]
Chr4:77817262 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.340G>C (p.Glu114Gln) single nucleotide variant not specified [RCV004457513] Chr4:76897510 [GRCh38]
Chr4:77818663 [GRCh37]
Chr4:4q21.1		 likely benign
NM_001029870.3(SOWAHB):c.2291C>T (p.Ala764Val) single nucleotide variant not specified [RCV004457512] Chr4:76895559 [GRCh38]
Chr4:77816712 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_001029870.3(SOWAHB):c.50C>T (p.Ala17Val) single nucleotide variant not specified [RCV004457514] Chr4:76897800 [GRCh38]
Chr4:77818953 [GRCh37]
Chr4:4q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:245
Count of miRNA genes:226
Interacting mature miRNAs:237
Transcripts:ENST00000334306
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 169 121 99 11 101 2 1 82 114 86 101 1 1
Low 779 284 1332 509 212 349 1719 19 1194 250 490 1261 167 28 911 3 2
Below cutoff 983 1697 251 12 700 11 2016 1309 2161 37 774 202 5 1 952 1451 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000334306   ⟹   ENSP00000334879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl476,894,152 - 76,898,144 (-)Ensembl
RefSeq Acc Id: NM_001029870   ⟹   NP_001025041
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38476,894,152 - 76,898,144 (-)NCBI
GRCh37477,816,082 - 77,819,002 (-)RGD
Build 36478,035,106 - 78,038,026 (-)NCBI Archive
Celera475,117,434 - 75,120,354 (-)RGD
HuRef473,568,396 - 73,571,316 (-)RGD
CHM1_1477,792,588 - 77,795,508 (-)NCBI
T2T-CHM13v2.0480,234,914 - 80,238,906 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001025041 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NEL2 (Get FASTA)   NCBI Sequence Viewer  
  AAI37242 (Get FASTA)   NCBI Sequence Viewer  
  AAI37256 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334879
  ENSP00000334879.2
Reference Protein Sequences
RefSeq Acc Id: NP_001025041   ⟸   NM_001029870
- UniProtKB: B2RP29 (UniProtKB/Swiss-Prot),   A6NEL2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000334879   ⟸   ENST00000334306

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NEL2-F1-model_v2 AlphaFold A6NEL2 1-793 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32958 AgrOrtholog
COSMIC SOWAHB COSMIC
Ensembl Genes ENSG00000186212 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000334306 ENTREZGENE
  ENST00000334306.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
GTEx ENSG00000186212 GTEx
HGNC ID HGNC:32958 ENTREZGENE
Human Proteome Map SOWAHB Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
KEGG Report hsa:345079 UniProtKB/Swiss-Prot
NCBI Gene 345079 ENTREZGENE
PANTHER ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN SOWAHB UniProtKB/Swiss-Prot
  UNCHARACTERIZED UniProtKB/Swiss-Prot
Pfam Ank_2 UniProtKB/Swiss-Prot
PharmGKB PA145149864 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
UniProt A6NEL2 ENTREZGENE
  B2RP29 ENTREZGENE
  SWAHB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RP29 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-01-17 SOWAHB  sosondowah ankyrin repeat domain family member B  ANKRD56  ankyrin repeat domain 56  Symbol and/or name change 5135510 APPROVED