SMARCA5 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5) - Rat Genome Database

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Gene: SMARCA5 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5) Homo sapiens
Analyze
Symbol: SMARCA5
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
RGD ID: 1318831
HGNC Page HGNC:11101
Description: Enables several functions, including ATP binding activity; ATP hydrolysis activity; and histone octamer slider activity. Contributes to histone binding activity. Involved in several processes, including negative regulation of mitotic chromosome condensation; nucleosome assembly; and positive regulation of nucleobase-containing compound metabolic process. Located in chromosome and nuclear lumen. Part of NURF complex. Is active in site of double-strand break.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hISWI; hSNF2H; ISWI; SNF2H; sucrose nonfermenting protein 2 homolog; sucrose nonfermenting-like 5; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5; WCRF135
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100422695   LOC100422696  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384143,513,702 - 143,557,486 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4143,513,702 - 143,557,486 (+)EnsemblGRCh38hg38GRCh38
GRCh374144,434,855 - 144,478,639 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364144,654,066 - 144,694,017 (+)NCBINCBI36Build 36hg18NCBI36
Build 344144,792,220 - 144,832,171NCBI
Celera4141,764,634 - 141,804,574 (+)NCBICelera
Cytogenetic Map4q31.21NCBI
HuRef4140,164,707 - 140,208,721 (+)NCBIHuRef
CHM1_14144,411,831 - 144,455,839 (+)NCBICHM1_1
T2T-CHM13v2.04146,830,915 - 146,874,681 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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. ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Hargreaves DC and Crabtree GR, Cell Res. 2011 Mar;21(3):396-420. doi: 10.1038/cr.2011.32. Epub 2011 Mar 1.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9730600   PMID:9836642   PMID:10655480   PMID:10662543   PMID:10747848   PMID:10880450   PMID:10914549   PMID:11435432   PMID:11532953   PMID:11691835   PMID:11980720   PMID:12167701  
PMID:12198550   PMID:12374985   PMID:12434153   PMID:12477932   PMID:12769854   PMID:12972596   PMID:14702039   PMID:14729942   PMID:14759371   PMID:15009096   PMID:15120635   PMID:15140983  
PMID:15148359   PMID:15284901   PMID:15302935   PMID:15313181   PMID:15489334   PMID:15543136   PMID:15616580   PMID:15635413   PMID:15775975   PMID:15780937   PMID:16085498   PMID:16344560  
PMID:16510874   PMID:16510875   PMID:16514417   PMID:16565220   PMID:16603771   PMID:16675956   PMID:16678107   PMID:16728976   PMID:16877760   PMID:16917504   PMID:16964243   PMID:17081983  
PMID:17099699   PMID:17314511   PMID:17846119   PMID:18029348   PMID:18162579   PMID:18519663   PMID:18535655   PMID:18553938   PMID:19092802   PMID:19454010   PMID:19578370   PMID:19940112  
PMID:20467437   PMID:20850016   PMID:20974961   PMID:21081503   PMID:21113140   PMID:21145461   PMID:21172662   PMID:21249171   PMID:21261476   PMID:21280222   PMID:21319273   PMID:21519849  
PMID:21532573   PMID:21549307   PMID:21738833   PMID:21873635   PMID:21900490   PMID:21907836   PMID:21937426   PMID:22147730   PMID:22154806   PMID:22242598   PMID:22412018   PMID:22439931  
PMID:22525276   PMID:22586326   PMID:22751105   PMID:22939629   PMID:23022380   PMID:23240041   PMID:23264744   PMID:23319141   PMID:23383273   PMID:23508102   PMID:23555303   PMID:23691993  
PMID:23858473   PMID:23911928   PMID:24332808   PMID:24457600   PMID:24498324   PMID:24607692   PMID:24711643   PMID:24800743   PMID:24981860   PMID:24990377   PMID:25184681   PMID:25377162  
PMID:25533843   PMID:25609649   PMID:25659154   PMID:25665578   PMID:25684208   PMID:25693804   PMID:25921289   PMID:26030138   PMID:26044184   PMID:26100909   PMID:26186194   PMID:26344197  
PMID:26446488   PMID:26496610   PMID:26666816   PMID:26831064   PMID:27019336   PMID:27049334   PMID:27248496   PMID:27268481   PMID:27385001   PMID:27637333   PMID:27684187   PMID:27976729  
PMID:28068325   PMID:28192407   PMID:28242625   PMID:28302793   PMID:28416769   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28803780   PMID:28977666   PMID:29021563   PMID:29089422  
PMID:29128334   PMID:29229926   PMID:29298432   PMID:29357390   PMID:29378234   PMID:29415469   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29664398   PMID:29721183  
PMID:29844126   PMID:29845934   PMID:29955894   PMID:30021884   PMID:30196744   PMID:30277474   PMID:30462309   PMID:30463901   PMID:30471916   PMID:30554943   PMID:30575898   PMID:30585729  
PMID:30699358   PMID:30716279   PMID:30804502   PMID:30824926   PMID:30890647   PMID:30948266   PMID:31010829   PMID:31045206   PMID:31046837   PMID:31076518   PMID:31091453   PMID:31094676  
PMID:31180492   PMID:31210637   PMID:31239290   PMID:31248990   PMID:31409639   PMID:31586073   PMID:31601173   PMID:31685992   PMID:31753913   PMID:31819269   PMID:31822558   PMID:31980649  
PMID:32068487   PMID:32197313   PMID:32203420   PMID:32239614   PMID:32416067   PMID:32433965   PMID:32460013   PMID:32513696   PMID:32518374   PMID:32521226   PMID:32632040   PMID:32687490  
PMID:32744500   PMID:32780723   PMID:32807692   PMID:32807901   PMID:32945237   PMID:33085761   PMID:33226137   PMID:33239621   PMID:33301849   PMID:33403747   PMID:33462405   PMID:33562358  
PMID:33567268   PMID:33731348   PMID:33749508   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34091597   PMID:34244565   PMID:34349018   PMID:34373451   PMID:34390329   PMID:34482767  
PMID:34551306   PMID:34585037   PMID:34709727   PMID:34901782   PMID:35013218   PMID:35140242   PMID:35182466   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318  
PMID:35509820   PMID:35681168   PMID:35705031   PMID:35785414   PMID:35831314   PMID:35850772   PMID:35896951   PMID:35944360   PMID:36089195   PMID:36114006   PMID:36168627   PMID:36200826  
PMID:36215168   PMID:36243803   PMID:36244648   PMID:36373674   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36538041   PMID:36574265   PMID:36630954   PMID:36634849   PMID:36766816  
PMID:36774506   PMID:36779763   PMID:36872061   PMID:36912080   PMID:37155876   PMID:37616343   PMID:37625840   PMID:37827155   PMID:38114488   PMID:38172120   PMID:38280479   PMID:38297188  


Genomics

Comparative Map Data
SMARCA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384143,513,702 - 143,557,486 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4143,513,702 - 143,557,486 (+)EnsemblGRCh38hg38GRCh38
GRCh374144,434,855 - 144,478,639 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364144,654,066 - 144,694,017 (+)NCBINCBI36Build 36hg18NCBI36
Build 344144,792,220 - 144,832,171NCBI
Celera4141,764,634 - 141,804,574 (+)NCBICelera
Cytogenetic Map4q31.21NCBI
HuRef4140,164,707 - 140,208,721 (+)NCBIHuRef
CHM1_14144,411,831 - 144,455,839 (+)NCBICHM1_1
T2T-CHM13v2.04146,830,915 - 146,874,681 (+)NCBIT2T-CHM13v2.0
Smarca5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39881,426,572 - 81,466,088 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl881,425,136 - 81,466,126 (-)EnsemblGRCm39 Ensembl
GRCm38880,699,943 - 80,739,459 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl880,698,507 - 80,739,497 (-)EnsemblGRCm38mm10GRCm38
MGSCv37883,223,842 - 83,263,358 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36883,595,689 - 83,635,205 (-)NCBIMGSCv36mm8
Celera884,973,840 - 85,010,486 (-)NCBICelera
Cytogenetic Map8C2NCBI
cM Map838.41NCBI
Smarca5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81944,172,465 - 44,208,967 (+)NCBIGRCr8
mRatBN7.21927,271,918 - 27,304,594 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1927,271,148 - 27,304,594 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1934,130,292 - 34,162,927 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01934,784,348 - 34,816,983 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01937,004,248 - 37,036,904 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01930,936,703 - 30,969,454 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1930,936,703 - 30,969,454 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01941,840,174 - 41,873,900 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41929,122,301 - 29,155,293 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11929,126,640 - 29,160,112 (+)NCBI
Celera1926,788,347 - 26,821,018 (+)NCBICelera
Cytogenetic Map19q11NCBI
Smarca5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547112,203,318 - 12,237,333 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547112,206,462 - 12,240,219 (-)NCBIChiLan1.0ChiLan1.0
SMARCA5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23141,384,818 - 141,431,020 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14141,772,592 - 141,817,851 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04135,874,888 - 135,917,096 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14147,174,145 - 147,214,809 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4147,174,060 - 147,214,809 (+)Ensemblpanpan1.1panPan2
SMARCA5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11542,731,147 - 42,771,577 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1542,731,426 - 42,770,624 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1543,114,109 - 43,154,330 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01543,391,125 - 43,431,354 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1543,391,132 - 43,431,358 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11542,668,391 - 42,708,501 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01542,752,138 - 42,792,336 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01543,023,307 - 43,063,521 (+)NCBIUU_Cfam_GSD_1.0
Smarca5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530147,420,476 - 47,452,913 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365354,856,672 - 4,890,225 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365354,857,816 - 4,890,266 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMARCA5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl884,184,576 - 84,224,871 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1884,184,572 - 84,224,943 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2889,339,602 - 89,379,481 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMARCA5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1790,366,359 - 90,406,707 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl790,370,305 - 90,410,137 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603769,966,455 - 70,007,230 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smarca5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248483,569,744 - 3,611,104 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMARCA5
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3 copy number gain See cases [RCV000051787] Chr4:140876253..152186578 [GRCh38]
Chr4:141797407..153107730 [GRCh37]
Chr4:142016857..153327180 [NCBI36]
Chr4:4q31.21-31.3		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21		 pathogenic
GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1 copy number loss See cases [RCV000053323] Chr4:140605955..144317039 [GRCh38]
Chr4:141527109..145238191 [GRCh37]
Chr4:141746559..145457641 [NCBI36]
Chr4:4q31.21		 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1 copy number loss See cases [RCV000140395] Chr4:143139072..143763698 [GRCh38]
Chr4:144060225..144684851 [GRCh37]
Chr4:144279675..144904301 [NCBI36]
Chr4:4q31.21		 uncertain significance
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
NM_003601.4(SMARCA5):c.326C>T (p.Ala109Val) single nucleotide variant not provided [RCV003159355] Chr4:143521502 [GRCh38]
Chr4:144442655 [GRCh37]
Chr4:4q31.21		 uncertain significance
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 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_003601.4(SMARCA5):c.1159-8_1159-3del deletion not provided [RCV003318254] Chr4:143534847..143534852 [GRCh38]
Chr4:144456000..144456005 [GRCh37]
Chr4:4q31.21		 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
NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln) single nucleotide variant Short stature [RCV000736232] Chr4:143528006 [GRCh38]
Chr4:144449159 [GRCh37]
Chr4:4q31.21		 likely 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
NM_003601.4(SMARCA5):c.1492C>A (p.Gln498Lys) single nucleotide variant Inborn genetic diseases [RCV003243968] Chr4:143536675 [GRCh38]
Chr4:144457828 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.78C>T (p.Ser26=) single nucleotide variant not provided [RCV000916068] Chr4:143514002 [GRCh38]
Chr4:144435155 [GRCh37]
Chr4:4q31.21		 benign
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1 copy number loss not provided [RCV000848032] Chr4:140522019..146347867 [GRCh37]
Chr4:4q31.1-31.21		 uncertain significance
NM_003601.4(SMARCA5):c.2641A>G (p.Ile881Val) single nucleotide variant Inborn genetic diseases [RCV003271998] Chr4:143546896 [GRCh38]
Chr4:144468049 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.153T>G (p.Ala51=) single nucleotide variant not provided [RCV000902623] Chr4:143514077 [GRCh38]
Chr4:144435230 [GRCh37]
Chr4:4q31.21		 likely benign
NM_003601.4(SMARCA5):c.276C>T (p.Phe92=) single nucleotide variant not provided [RCV000953213] Chr4:143521452 [GRCh38]
Chr4:144442605 [GRCh37]
Chr4:4q31.21		 benign
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1 copy number loss not provided [RCV001005600] Chr4:139531815..146095109 [GRCh37]
Chr4:4q31.1-31.21		 pathogenic
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1 copy number loss not provided [RCV001834392] Chr4:138289049..145923298 [GRCh37]
Chr4:4q28.3-31.21		 pathogenic
NM_003601.4(SMARCA5):c.2207G>A (p.Arg736Gln) single nucleotide variant not provided [RCV001767854] Chr4:143544771 [GRCh38]
Chr4:144465924 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.1759C>A (p.Leu587Ile) single nucleotide variant not provided [RCV001769209] Chr4:143538927 [GRCh38]
Chr4:144460080 [GRCh37]
Chr4:4q31.21		 uncertain significance
GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930) copy number gain not specified [RCV002053457] Chr4:136035308..144718930 [GRCh37]
Chr4:4q28.3-31.21		 uncertain significance
NM_003601.4(SMARCA5):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV002043047] Chr4:143513927 [GRCh38]
Chr4:144435080 [GRCh37]
Chr4:4q31.21		 uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_003601.4(SMARCA5):c.622G>A (p.Gly208Ser) single nucleotide variant not provided [RCV002274747] Chr4:143526281 [GRCh38]
Chr4:144447434 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.23C>A (p.Pro8Gln) single nucleotide variant not provided [RCV002285970] Chr4:143513947 [GRCh38]
Chr4:144435100 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly) single nucleotide variant Intellectual disability [RCV002287636] Chr4:143528000 [GRCh38]
Chr4:144449153 [GRCh37]
Chr4:4q31.21		 likely pathogenic
NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys) single nucleotide variant Global developmental delay [RCV002468795] Chr4:143547408 [GRCh38]
Chr4:144468561 [GRCh37]
Chr4:4q31.21		 pathogenic
NM_003601.4(SMARCA5):c.1378C>T (p.Pro460Ser) single nucleotide variant not provided [RCV002469631] Chr4:143536561 [GRCh38]
Chr4:144457714 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.292C>T (p.Gln98Ter) single nucleotide variant not provided [RCV002466998] Chr4:143521468 [GRCh38]
Chr4:144442621 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del) deletion Short stature [RCV002468794] Chr4:143536483..143536488 [GRCh38]
Chr4:144457636..144457641 [GRCh37]
Chr4:4q31.21		 pathogenic
NM_003601.4(SMARCA5):c.163G>A (p.Asp55Asn) single nucleotide variant Inborn genetic diseases [RCV002859684] Chr4:143514087 [GRCh38]
Chr4:144435240 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.166G>T (p.Ala56Ser) single nucleotide variant Inborn genetic diseases [RCV002754780] Chr4:143514090 [GRCh38]
Chr4:144435243 [GRCh37]
Chr4:4q31.21		 likely benign
NM_003601.4(SMARCA5):c.2080A>G (p.Lys694Glu) single nucleotide variant Inborn genetic diseases [RCV002883237] Chr4:143543880 [GRCh38]
Chr4:144465033 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.1768A>G (p.Met590Val) single nucleotide variant Inborn genetic diseases [RCV002865595] Chr4:143538936 [GRCh38]
Chr4:144460089 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.119T>G (p.Val40Gly) single nucleotide variant Inborn genetic diseases [RCV002687952] Chr4:143514043 [GRCh38]
Chr4:144435196 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.2016_2018del (p.Glu672del) deletion not provided [RCV003036953] Chr4:143543619..143543621 [GRCh38]
Chr4:144464772..144464774 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.2594T>C (p.Ile865Thr) single nucleotide variant Inborn genetic diseases [RCV002737832] Chr4:143546849 [GRCh38]
Chr4:144468002 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.1240G>C (p.Val414Leu) single nucleotide variant Inborn genetic diseases [RCV002758603] Chr4:143534936 [GRCh38]
Chr4:144456089 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.506A>G (p.Glu169Gly) single nucleotide variant not provided [RCV002510174] Chr4:143524453 [GRCh38]
Chr4:144445606 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.1321A>G (p.Met441Val) single nucleotide variant Inborn genetic diseases [RCV002668170] Chr4:143536504 [GRCh38]
Chr4:144457657 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.140C>G (p.Ser47Cys) single nucleotide variant Inborn genetic diseases [RCV002789254] Chr4:143514064 [GRCh38]
Chr4:144435217 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.143C>G (p.Ala48Gly) single nucleotide variant Inborn genetic diseases [RCV002789255] Chr4:143514067 [GRCh38]
Chr4:144435220 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.131C>T (p.Ala44Val) single nucleotide variant Inborn genetic diseases [RCV002835855] Chr4:143514055 [GRCh38]
Chr4:144435208 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.167C>A (p.Ala56Asp) single nucleotide variant Inborn genetic diseases [RCV002668574] Chr4:143514091 [GRCh38]
Chr4:144435244 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.2416C>G (p.Leu806Val) single nucleotide variant Inborn genetic diseases [RCV003189907] Chr4:143545943 [GRCh38]
Chr4:144467096 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.146C>T (p.Ala49Val) single nucleotide variant Inborn genetic diseases [RCV003195939] Chr4:143514070 [GRCh38]
Chr4:144435223 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.2175T>G (p.Ile725Met) single nucleotide variant Inborn genetic diseases [RCV003193480] Chr4:143544739 [GRCh38]
Chr4:144465892 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.364C>G (p.Pro122Ala) single nucleotide variant Inborn genetic diseases [RCV003372510] Chr4:143521540 [GRCh38]
Chr4:144442693 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.57G>T (p.Lys19Asn) single nucleotide variant Inborn genetic diseases [RCV003371166] Chr4:143513981 [GRCh38]
Chr4:144435134 [GRCh37]
Chr4:4q31.21		 uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
NM_003601.4(SMARCA5):c.1024AAC[1] (p.Asn343del) microsatellite SMARCA5-related condition [RCV003402225] Chr4:143528649..143528651 [GRCh38]
Chr4:144449802..144449804 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.2702T>C (p.Met901Thr) single nucleotide variant not provided [RCV003441275] Chr4:143547433 [GRCh38]
Chr4:144468586 [GRCh37]
Chr4:4q31.21		 uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
NM_003601.4(SMARCA5):c.1859G>A (p.Arg620His) single nucleotide variant SMARCA5-related condition [RCV003893788] Chr4:143540451 [GRCh38]
Chr4:144461604 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.161C>T (p.Ala54Val) single nucleotide variant SMARCA5-related condition [RCV003952276] Chr4:143514085 [GRCh38]
Chr4:144435238 [GRCh37]
Chr4:4q31.21		 likely benign
NM_003601.4(SMARCA5):c.2932C>T (p.Arg978Cys) single nucleotide variant SMARCA5-related condition [RCV003982680] Chr4:143548087 [GRCh38]
Chr4:144469240 [GRCh37]
Chr4:4q31.21		 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_003601.4(SMARCA5):c.1426A>C (p.Met476Leu) single nucleotide variant Inborn genetic diseases [RCV004459686] Chr4:143536609 [GRCh38]
Chr4:144457762 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.148A>C (p.Ser50Arg) single nucleotide variant Inborn genetic diseases [RCV004459688] Chr4:143514072 [GRCh38]
Chr4:144435225 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.2257C>T (p.Arg753Cys) single nucleotide variant Inborn genetic diseases [RCV004459691] Chr4:143544821 [GRCh38]
Chr4:144465974 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.25C>G (p.Pro9Ala) single nucleotide variant Inborn genetic diseases [RCV004459693] Chr4:143513949 [GRCh38]
Chr4:144435102 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.1651A>G (p.Thr551Ala) single nucleotide variant Inborn genetic diseases [RCV004459689] Chr4:143538819 [GRCh38]
Chr4:144459972 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.3121C>T (p.Pro1041Ser) single nucleotide variant Inborn genetic diseases [RCV004459694] Chr4:143553146 [GRCh38]
Chr4:144474299 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.1321A>T (p.Met441Leu) single nucleotide variant Inborn genetic diseases [RCV004459685] Chr4:143536504 [GRCh38]
Chr4:144457657 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.1427T>C (p.Met476Thr) single nucleotide variant Inborn genetic diseases [RCV004459687] Chr4:143536610 [GRCh38]
Chr4:144457763 [GRCh37]
Chr4:4q31.21		 uncertain significance
NM_003601.4(SMARCA5):c.2386A>G (p.Ile796Val) single nucleotide variant Inborn genetic diseases [RCV004459692] Chr4:143545572 [GRCh38]
Chr4:144466725 [GRCh37]
Chr4:4q31.21		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR99Bhsa-miR-99b-5pOncomiRDBexternal_infoNANA21212412
MIR100hsa-miR-100-5pOncomiRDBexternal_infoNANA21212412
MIR99Ahsa-miR-99a-5pOncomiRDBexternal_infoNANA21212412

Predicted Target Of
Summary Value
Count of predictions:1511
Count of miRNA genes:872
Interacting mature miRNAs:1021
Transcripts:ENST00000283131, ENST00000508573, ENST00000515531
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-68114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374144,475,372 - 144,475,495UniSTSGRCh37
Build 364144,694,822 - 144,694,945RGDNCBI36
Celera4141,805,379 - 141,805,502RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4140,205,450 - 140,205,573UniSTS
TNG Radiation Hybrid Map486588.0UniSTS
GeneMap99-GB4 RH Map4623.59UniSTS
SHGC-67312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374144,474,277 - 144,474,517UniSTSGRCh37
Build 364144,693,727 - 144,693,967RGDNCBI36
Celera4141,804,284 - 141,804,524RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4140,204,354 - 140,204,594UniSTS
TNG Radiation Hybrid Map494819.0UniSTS
GeneMap99-GB4 RH Map4620.41UniSTS
RH122560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374144,447,204 - 144,447,509UniSTSGRCh37
Build 364144,666,654 - 144,666,959RGDNCBI36
Celera4141,777,221 - 141,777,526RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4140,177,295 - 140,177,600UniSTS
TNG Radiation Hybrid Map486571.0UniSTS
D4S846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374144,444,501 - 144,444,667UniSTSGRCh37
Build 364144,663,951 - 144,664,117RGDNCBI36
Celera4141,774,518 - 141,774,684RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4140,174,592 - 140,174,758UniSTS
TNG Radiation Hybrid Map486571.0UniSTS
Stanford-G3 RH Map47948.0UniSTS
NCBI RH Map41499.6UniSTS
RH70242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374144,475,326 - 144,475,474UniSTSGRCh37
Build 364144,694,776 - 144,694,924RGDNCBI36
Celera4141,805,333 - 141,805,481RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4140,205,404 - 140,205,552UniSTS
GeneMap99-GB4 RH Map4618.7UniSTS
MARC_12251-12252:1005143327:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374144,467,113 - 144,468,005UniSTSGRCh37
Build 364144,686,563 - 144,687,455RGDNCBI36
Celera4141,797,118 - 141,798,010RGD
HuRef4140,197,191 - 140,198,083UniSTS


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 2404 2054 1481 382 1351 226 4145 1825 3320 353 1452 1610 172 1 1203 2611 6
Low 35 935 245 242 598 239 211 372 414 66 8 3 3 1 177 2
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB010882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000283131   ⟹   ENSP00000283131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4143,513,702 - 143,557,486 (+)Ensembl
RefSeq Acc Id: ENST00000508573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4143,547,432 - 143,548,218 (+)Ensembl
RefSeq Acc Id: ENST00000515531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4143,543,633 - 143,544,356 (+)Ensembl
RefSeq Acc Id: NM_003601   ⟹   NP_003592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384143,513,702 - 143,557,486 (+)NCBI
GRCh374144,434,616 - 144,478,642 (+)ENTREZGENE
Build 364144,654,066 - 144,694,017 (+)NCBI Archive
HuRef4140,164,707 - 140,208,721 (+)ENTREZGENE
CHM1_14144,411,831 - 144,455,839 (+)NCBI
T2T-CHM13v2.04146,830,915 - 146,874,681 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416323   ⟹   XP_047272279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384143,513,702 - 143,543,538 (+)NCBI
RefSeq Acc Id: XM_054351108   ⟹   XP_054207083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04146,830,915 - 146,860,734 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_003592   ⟸   NM_003601
- UniProtKB: O60264 (UniProtKB/Swiss-Prot),   B4DZC0 (UniProtKB/TrEMBL),   B7ZAX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000283131   ⟸   ENST00000283131
RefSeq Acc Id: XP_047272279   ⟸   XM_047416323
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054207083   ⟸   XM_054351108
- Peptide Label: isoform X1
Protein Domains
Helicase ATP-binding   Helicase C-terminal   SANT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60264-F1-model_v2 AlphaFold O60264 1-1052 view protein structure

Promoters
RGD ID:6868574
Promoter ID:EPDNEW_H7452
Type:initiation region
Name:SMARCA5_1
Description:SWI/SNF related, matrix associated, actin dependent regulatorof chromatin, subfamily a, member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7453  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384143,513,463 - 143,513,523EPDNEW
RGD ID:6868576
Promoter ID:EPDNEW_H7453
Type:initiation region
Name:SMARCA5_2
Description:SWI/SNF related, matrix associated, actin dependent regulatorof chromatin, subfamily a, member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7452  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384143,513,708 - 143,513,768EPDNEW
RGD ID:6802616
Promoter ID:HG_KWN:49202
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003601
Position:
Human AssemblyChrPosition (strand)Source
Build 364144,653,866 - 144,654,562 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11101 AgrOrtholog
COSMIC SMARCA5 COSMIC
Ensembl Genes ENSG00000153147 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000283131 ENTREZGENE
  ENST00000283131.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1040.30 UniProtKB/Swiss-Prot
  3.40.50.10810 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  iswi atpase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISWI, HAND domain UniProtKB/TrEMBL
GTEx ENSG00000153147 GTEx
HGNC ID HGNC:11101 ENTREZGENE
Human Proteome Map SMARCA5 Human Proteome Map
InterPro Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISWI_HAND-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISWI_HAND-dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SANT/Myb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SANT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLIDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2/RAD54-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8467 UniProtKB/Swiss-Prot
NCBI Gene 8467 ENTREZGENE
OMIM 603375 OMIM
PANTHER CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 3-RELATED-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISW-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2/RAD54 HELICASE FAMILY UniProtKB/TrEMBL
  SWI/SNF-RELATED MATRIX-ASSOCIATED ACTIN-DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY A MEMBER 5 UniProtKB/TrEMBL
Pfam HAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLIDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35951 PharmGKB
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SANT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SANT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP HAND domain of the nucleosome remodeling ATPase ISWI UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/TrEMBL
  SSF101224 UniProtKB/Swiss-Prot
  SSF46689 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DZC0 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAX9 ENTREZGENE, UniProtKB/TrEMBL
  O60264 ENTREZGENE
  Q4W5G3_HUMAN UniProtKB/TrEMBL
  Q4W5H1_HUMAN UniProtKB/TrEMBL
  SMCA5_HUMAN UniProtKB/Swiss-Prot