SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1) - Rat Genome Database

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Gene: SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1) Homo sapiens
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Symbol: SMARCAD1
Name: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
RGD ID: 1320088
HGNC Page HGNC:18398
Description: Enables ATP-dependent chromatin remodeler activity and DNA binding activity. Involved in several processes, including DNA double-strand break processing; chromosome separation; and regulation of DNA recombination. Located in nuclear replication fork; nucleoplasm; and site of double-strand break. Implicated in BASAN syndrome and adermatoglyphia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADERM; ATP-dependent helicase 1; BASNS; DKFZp762K2015; ETL1; HEL1; hHEL1; HRZ; KIAA1122; sclerotylosis; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1; TYS
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38494,207,608 - 94,291,292 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl494,207,611 - 94,291,292 (+)EnsemblGRCh38hg38GRCh38
GRCh37495,128,759 - 95,212,443 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36495,348,217 - 95,431,466 (+)NCBINCBI36Build 36hg18NCBI36
Build 34495,486,375 - 95,569,619NCBI
Celera492,425,422 - 92,509,567 (+)NCBICelera
Cytogenetic Map4q22.3NCBI
HuRef490,866,484 - 90,950,188 (+)NCBIHuRef
CHM1_1495,105,434 - 95,189,155 (+)NCBICHM1_1
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases. Adra CN, etal., Genomics. 2000 Oct 15;69(2):162-73.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10574461   PMID:10631162   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:16344560   PMID:17081983   PMID:18029348   PMID:18675275   PMID:20467437   PMID:20508149  
PMID:20889312   PMID:21549307   PMID:21820097   PMID:21873635   PMID:22101266   PMID:22863883   PMID:22864933   PMID:22960744   PMID:23666239   PMID:24909267   PMID:24952745   PMID:25231870  
PMID:25609649   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26932190   PMID:27232533   PMID:27239795   PMID:28063255   PMID:28225217   PMID:28514442  
PMID:28515276   PMID:29284678   PMID:29395067   PMID:29409814   PMID:29467282   PMID:29899141   PMID:29955894   PMID:30021884   PMID:30308496   PMID:30948266   PMID:31091453   PMID:31204252  
PMID:31753913   PMID:31843968   PMID:32416067   PMID:32665550   PMID:32786267   PMID:33087821   PMID:33400266   PMID:33545068   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34591612  
PMID:35044719   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35509820   PMID:35563538   PMID:35784486   PMID:35831314   PMID:35914814   PMID:35944360   PMID:35973513   PMID:36042349  
PMID:36089195   PMID:36129980   PMID:36215168   PMID:37140056   PMID:37689310   PMID:37761933   PMID:37827155  


Genomics

Comparative Map Data
SMARCAD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38494,207,608 - 94,291,292 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl494,207,611 - 94,291,292 (+)EnsemblGRCh38hg38GRCh38
GRCh37495,128,759 - 95,212,443 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36495,348,217 - 95,431,466 (+)NCBINCBI36Build 36hg18NCBI36
Build 34495,486,375 - 95,569,619NCBI
Celera492,425,422 - 92,509,567 (+)NCBICelera
Cytogenetic Map4q22.3NCBI
HuRef490,866,484 - 90,950,188 (+)NCBIHuRef
CHM1_1495,105,434 - 95,189,155 (+)NCBICHM1_1
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBIT2T-CHM13v2.0
Smarcad1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39665,019,577 - 65,093,045 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl665,019,567 - 65,093,045 (+)EnsemblGRCm39 Ensembl
GRCm38665,042,591 - 65,116,061 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl665,042,583 - 65,116,061 (+)EnsemblGRCm38mm10GRCm38
MGSCv37664,992,661 - 65,066,043 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36664,972,245 - 65,045,627 (+)NCBIMGSCv36mm8
Celera667,171,499 - 67,244,846 (+)NCBICelera
Cytogenetic Map6C1NCBI
cM Map630.11NCBI
Smarcad1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2494,311,441 - 94,379,184 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl494,311,489 - 94,372,563 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx499,549,918 - 99,610,415 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0495,324,859 - 95,385,356 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0493,736,926 - 93,797,430 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0495,884,020 - 95,945,248 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl495,884,743 - 95,945,248 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04160,672,439 - 160,733,484 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4494,550,328 - 94,610,832 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1494,667,009 - 94,853,643 (+)NCBI
Celera489,045,399 - 89,105,903 (+)NCBICelera
Cytogenetic Map4q31NCBI
SMARCAD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1492,511,744 - 92,595,541 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0486,567,722 - 86,651,527 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1497,240,372 - 97,324,366 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl497,240,614 - 97,324,366 (+)Ensemblpanpan1.1panPan2
SMARCAD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13217,089,514 - 17,167,917 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3217,090,293 - 17,166,648 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3224,781,866 - 24,860,142 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03217,268,012 - 17,346,503 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3217,268,032 - 17,346,316 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13217,240,273 - 17,318,583 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03217,054,568 - 17,132,878 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03222,758,880 - 22,837,193 (-)NCBIUU_Cfam_GSD_1.0
Smarcad1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530124,542,989 - 24,617,955 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366871,729,417 - 1,803,992 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366871,728,848 - 1,803,992 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMARCAD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8125,409,507 - 125,488,153 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18125,410,221 - 125,488,471 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28134,696,468 - 134,777,487 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMARCAD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1742,468,551 - 42,552,493 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl742,498,601 - 42,553,661 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603720,832,016 - 20,916,390 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smarcad1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475722,038,542 - 22,103,960 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475722,038,421 - 22,103,266 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMARCAD1
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020159.5(SMARCAD1):c.1281+665G>T single nucleotide variant Adermatoglyphia [RCV000023972]|Basan syndrome [RCV000417757] Chr4:94253672 [GRCh38]
Chr4:95174823 [GRCh37]
Chr4:4q22.3
pathogenic
NM_001128430.1(SMARCAD1):c.369-337A>G single nucleotide variant Lung cancer [RCV000095106] Chr4:94233617 [GRCh38]
Chr4:95154768 [GRCh37]
Chr4:4q22.3
uncertain significance
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 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
NM_001128430.1(SMARCAD1):c.2669T>A (p.Val890Asp) single nucleotide variant Malignant melanoma [RCV000066583] Chr4:94281527 [GRCh38]
Chr4:95202678 [GRCh37]
Chr4:95421701 [NCBI36]
Chr4:4q22.3
not provided
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3
pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24
pathogenic
GRCh38/hg38 4q22.1-22.3(chr4:92087558-94308725)x1 copy number loss See cases [RCV000137734] Chr4:92087558..94308725 [GRCh38]
Chr4:93008709..95229876 [GRCh37]
Chr4:93227732..95448899 [NCBI36]
Chr4:4q22.1-22.3
uncertain significance
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 copy number loss See cases [RCV000140412] Chr4:92610413..101521991 [GRCh38]
Chr4:93531564..102443148 [GRCh37]
Chr4:93750587..102662171 [NCBI36]
Chr4:4q22.1-24
pathogenic
GRCh38/hg38 4q22.2-22.3(chr4:94071164-94561427)x4 copy number gain See cases [RCV000141390] Chr4:94071164..94561427 [GRCh38]
Chr4:94992315..95482578 [GRCh37]
Chr4:95211338..95701601 [NCBI36]
Chr4:4q22.2-22.3
uncertain significance
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
NM_020159.5(SMARCAD1):c.1281+665G>A single nucleotide variant Adermatoglyphia [RCV000167533]|not provided [RCV002225487] Chr4:94253672 [GRCh38]
Chr4:95174823 [GRCh37]
Chr4:4q22.3
pathogenic|not provided
NM_020159.5(SMARCAD1):c.1281+666T>C single nucleotide variant Adermatoglyphia [RCV000167534]|Keratoderma with scleroatrophy of the extremities [RCV000761203] Chr4:94253673 [GRCh38]
Chr4:95174824 [GRCh37]
Chr4:4q22.3
pathogenic|not provided
NM_020159.5(SMARCAD1):c.1281+669G>C single nucleotide variant Adermatoglyphia [RCV000167535] Chr4:94253676 [GRCh38]
Chr4:95174827 [GRCh37]
Chr4:4q22.3
pathogenic|not provided
NM_020159.5(SMARCAD1):c.1281+667A>T single nucleotide variant Basan syndrome [RCV000167536] Chr4:94253674 [GRCh38]
Chr4:95174825 [GRCh37]
Chr4:4q22.3
pathogenic|uncertain significance|not provided
NM_020159.5(SMARCAD1):c.304G>A (p.Val102Ile) single nucleotide variant not specified [RCV000412974] Chr4:94226232 [GRCh38]
Chr4:95147383 [GRCh37]
Chr4:4q22.3
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 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24
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 4q22.1-24(chr4:92201567-103043808)x1 copy number loss See cases [RCV000511194] Chr4:92201567..103043808 [GRCh37]
Chr4:4q22.1-24
pathogenic
GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1 copy number loss See cases [RCV000510980] Chr4:89891197..98235479 [GRCh37]
Chr4:4q22.1-22.3
likely 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
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 4q22.1-22.3(chr4:90005204-96971785)x1 copy number loss not provided [RCV000682434] Chr4:90005204..96971785 [GRCh37]
Chr4:4q22.1-22.3
pathogenic
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 copy number loss not provided [RCV000682426] Chr4:81314915..96636651 [GRCh37]
Chr4:4q21.21-22.3
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 4q22.1-22.3(chr4:93344512-95415483)x3 copy number gain not provided [RCV000743825] Chr4:93344512..95415483 [GRCh37]
Chr4:4q22.1-22.3
uncertain significance
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_020159.5(SMARCAD1):c.1479A>G (p.Gln493=) single nucleotide variant Adermatoglyphia [RCV001810210]|Basan syndrome [RCV001810211]|Keratoderma with scleroatrophy of the extremities [RCV001810209]|not provided [RCV001666599] Chr4:94264904 [GRCh38]
Chr4:95186055 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.1281+649_1281+666del deletion Keratoderma with scleroatrophy of the extremities [RCV000761204] Chr4:94253656..94253673 [GRCh38]
Chr4:95174807..95174824 [GRCh37]
Chr4:4q22.3
pathogenic
NM_020159.5(SMARCAD1):c.1281+666dup duplication Keratoderma with scleroatrophy of the extremities [RCV000761205]|not provided [RCV001592946] Chr4:94253672..94253673 [GRCh38]
Chr4:95174823..95174824 [GRCh37]
Chr4:4q22.3
pathogenic|likely pathogenic
NM_020159.5(SMARCAD1):c.1051C>T (p.Pro351Ser) single nucleotide variant not provided [RCV000950398] Chr4:94252777 [GRCh38]
Chr4:95173928 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.2841C>T (p.His947=) single nucleotide variant not provided [RCV000982509] Chr4:94283235 [GRCh38]
Chr4:95204386 [GRCh37]
Chr4:4q22.3
likely benign
NM_020159.5(SMARCAD1):c.2001C>G (p.Leu667=) single nucleotide variant not provided [RCV000882915] Chr4:94277078 [GRCh38]
Chr4:95198229 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.933A>G (p.Glu311=) single nucleotide variant not provided [RCV000971877] Chr4:94252659 [GRCh38]
Chr4:95173810 [GRCh37]
Chr4:4q22.3
benign|likely benign
NM_020159.5(SMARCAD1):c.2766C>T (p.Ile922=) single nucleotide variant not provided [RCV000976595] Chr4:94283160 [GRCh38]
Chr4:95204311 [GRCh37]
Chr4:4q22.3
likely benign
NM_020159.5(SMARCAD1):c.112C>G (p.Leu38Val) single nucleotide variant Inborn genetic diseases [RCV003290256] Chr4:94208506 [GRCh38]
Chr4:95129657 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1839C>T (p.Asp613=) single nucleotide variant Adermatoglyphia [RCV001810153]|Basan syndrome [RCV001810154]|Keratoderma with scleroatrophy of the extremities [RCV001810152]|not provided [RCV001619599] Chr4:94276369 [GRCh38]
Chr4:95197520 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.190+290G>A single nucleotide variant not provided [RCV001645670] Chr4:94208874 [GRCh38]
Chr4:95130025 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.705+268G>A single nucleotide variant not provided [RCV001689274] Chr4:94241274 [GRCh38]
Chr4:95162425 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.2726+283CAA[5] microsatellite not provided [RCV001654765] Chr4:94281873..94281875 [GRCh38]
Chr4:95203024..95203026 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.2608-131G>A single nucleotide variant not provided [RCV001616558] Chr4:94281341 [GRCh38]
Chr4:95202492 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.2608-248G>C single nucleotide variant not provided [RCV001609919] Chr4:94281224 [GRCh38]
Chr4:95202375 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.2007G>A (p.Ser669=) single nucleotide variant not provided [RCV000974607] Chr4:94277084 [GRCh38]
Chr4:95198235 [GRCh37]
Chr4:4q22.3
likely benign
NM_020159.5(SMARCAD1):c.412A>G (p.Met138Val) single nucleotide variant not provided [RCV000905985] Chr4:94233997 [GRCh38]
Chr4:95155148 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.2197C>G (p.Pro733Ala) single nucleotide variant not provided [RCV000888974] Chr4:94278634 [GRCh38]
Chr4:95199785 [GRCh37]
Chr4:4q22.3
likely benign
NM_020159.5(SMARCAD1):c.2946G>A (p.Thr982=) single nucleotide variant not provided [RCV000911829] Chr4:94284996 [GRCh38]
Chr4:95206147 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.-50+17T>C single nucleotide variant not provided [RCV001608655] Chr4:94208087 [GRCh38]
Chr4:95129238 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.902T>C (p.Val301Ala) single nucleotide variant Adermatoglyphia [RCV001810107]|Basan syndrome [RCV001810108]|Keratoderma with scleroatrophy of the extremities [RCV001810106]|not provided [RCV001595494] Chr4:94252628 [GRCh38]
Chr4:95173779 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.605-61C>T single nucleotide variant not provided [RCV001674329] Chr4:94240845 [GRCh38]
Chr4:95161996 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.2083-94C>G single nucleotide variant not provided [RCV001695087] Chr4:94278328 [GRCh38]
Chr4:95199479 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.2263T>C (p.Phe755Leu) single nucleotide variant Adermatoglyphia [RCV001253615] Chr4:94278700 [GRCh38]
Chr4:95199851 [GRCh37]
Chr4:4q22.3
pathogenic
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1 copy number loss not provided [RCV001259285] Chr4:94692345..101308220 [GRCh37]
Chr4:4q22.2-24
likely pathogenic
Single allele complex Basan syndrome [RCV001358803] Chr4:94175790..94254228 [GRCh38]
Chr4:4q22.2-22.3
pathogenic
NM_020159.5(SMARCAD1):c.2557T>A (p.Ser853Thr) single nucleotide variant Neurodevelopmental disorder [RCV001291509] Chr4:94280730 [GRCh38]
Chr4:95201881 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.2905A>G (p.Thr969Ala) single nucleotide variant not provided [RCV001356227] Chr4:94283299 [GRCh38]
Chr4:95204450 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.368+106C>T single nucleotide variant not provided [RCV001650536] Chr4:94226402 [GRCh38]
Chr4:95147553 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.191-215C>G single nucleotide variant not provided [RCV001710911] Chr4:94225904 [GRCh38]
Chr4:95147055 [GRCh37]
Chr4:4q22.3
benign
NM_020159.5(SMARCAD1):c.740G>A (p.Ser247Asn) single nucleotide variant Adermatoglyphia [RCV001810278]|Basan syndrome [RCV001810279]|Keratoderma with scleroatrophy of the extremities [RCV001810277]|not provided [RCV001708573] Chr4:94249688 [GRCh38]
Chr4:95170839 [GRCh37]
Chr4:4q22.3
benign
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 4q22.2-22.3(chr4:95007859-95510281) copy number loss not specified [RCV002053442] Chr4:95007859..95510281 [GRCh37]
Chr4:4q22.2-22.3
uncertain significance
GRCh37/hg19 4q22.2-22.3(chr4:94684885-95389684)x3 copy number gain not provided [RCV001834497] Chr4:94684885..95389684 [GRCh37]
Chr4:4q22.2-22.3
uncertain significance
NM_020159.5(SMARCAD1):c.451C>G (p.Leu151Val) single nucleotide variant Inborn genetic diseases [RCV002901878] Chr4:94234036 [GRCh38]
Chr4:95155187 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1129G>A (p.Gly377Ser) single nucleotide variant Inborn genetic diseases [RCV002882902] Chr4:94252855 [GRCh38]
Chr4:95174006 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1156A>G (p.Lys386Glu) single nucleotide variant Inborn genetic diseases [RCV002794391] Chr4:94252882 [GRCh38]
Chr4:95174033 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.142G>A (p.Glu48Lys) single nucleotide variant Inborn genetic diseases [RCV002762133] Chr4:94208536 [GRCh38]
Chr4:95129687 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.650A>G (p.Tyr217Cys) single nucleotide variant Inborn genetic diseases [RCV003001133] Chr4:94240951 [GRCh38]
Chr4:95162102 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1064T>C (p.Val355Ala) single nucleotide variant Inborn genetic diseases [RCV002844882] Chr4:94252790 [GRCh38]
Chr4:95173941 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1195G>A (p.Gly399Ser) single nucleotide variant Inborn genetic diseases [RCV002787883] Chr4:94252921 [GRCh38]
Chr4:95174072 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1544G>A (p.Gly515Glu) single nucleotide variant Inborn genetic diseases [RCV002893306] Chr4:94270790 [GRCh38]
Chr4:95191941 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.89C>G (p.Pro30Arg) single nucleotide variant Inborn genetic diseases [RCV002931226] Chr4:94208483 [GRCh38]
Chr4:95129634 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.908A>C (p.Gln303Pro) single nucleotide variant Inborn genetic diseases [RCV002929703] Chr4:94252634 [GRCh38]
Chr4:95173785 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.13A>G (p.Asn5Asp) single nucleotide variant Inborn genetic diseases [RCV002719245] Chr4:94208407 [GRCh38]
Chr4:95129558 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1036A>G (p.Lys346Glu) single nucleotide variant Inborn genetic diseases [RCV002812831] Chr4:94252762 [GRCh38]
Chr4:95173913 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.2678A>T (p.His893Leu) single nucleotide variant Inborn genetic diseases [RCV002935825] Chr4:94281542 [GRCh38]
Chr4:95202693 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.943A>G (p.Arg315Gly) single nucleotide variant Inborn genetic diseases [RCV002768952] Chr4:94252669 [GRCh38]
Chr4:95173820 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.319T>C (p.Ser107Pro) single nucleotide variant Inborn genetic diseases [RCV003181317] Chr4:94226247 [GRCh38]
Chr4:95147398 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.2942G>A (p.Gly981Glu) single nucleotide variant Inborn genetic diseases [RCV003191942] Chr4:94284992 [GRCh38]
Chr4:95206143 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1285A>G (p.Thr429Ala) single nucleotide variant Inborn genetic diseases [RCV003183910] Chr4:94264710 [GRCh38]
Chr4:95185861 [GRCh37]
Chr4:4q22.3
uncertain significance
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 copy number loss Chromosome 4q21 deletion syndrome [RCV003327709] Chr4:79123548..99457773 [GRCh38]
Chr4:4q21.21-23
pathogenic
NM_020159.5(SMARCAD1):c.2914G>A (p.Val972Ile) single nucleotide variant Inborn genetic diseases [RCV003381036] Chr4:94284964 [GRCh38]
Chr4:95206115 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.385G>A (p.Asp129Asn) single nucleotide variant Inborn genetic diseases [RCV003367649] Chr4:94233970 [GRCh38]
Chr4:95155121 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1822A>G (p.Ile608Val) single nucleotide variant Inborn genetic diseases [RCV003366704] Chr4:94276352 [GRCh38]
Chr4:95197503 [GRCh37]
Chr4:4q22.3
uncertain significance
NM_020159.5(SMARCAD1):c.1282-6del deletion not provided [RCV003435106] Chr4:94264701 [GRCh38]
Chr4:95185852 [GRCh37]
Chr4:4q22.3
benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3704
Count of miRNA genes:946
Interacting mature miRNAs:1158
Transcripts:ENST00000354268, ENST00000359052, ENST00000394961, ENST00000457823, ENST00000506089, ENST00000509418, ENST00000510105, ENST00000514232
Prediction methods:Microtar, 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.

Markers in Region
G33505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,211,731 - 95,211,927UniSTSGRCh37
Build 36495,430,754 - 95,430,950RGDNCBI36
Celera492,508,855 - 92,509,051RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,949,476 - 90,949,672UniSTS
SHGC-24039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,211,836 - 95,211,927UniSTSGRCh37
Build 36495,430,859 - 95,430,950RGDNCBI36
Celera492,508,960 - 92,509,051RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,949,581 - 90,949,672UniSTS
TNG Radiation Hybrid Map458841.0UniSTS
SHGC-68143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,211,724 - 95,211,926UniSTSGRCh37
Build 36495,430,747 - 95,430,949RGDNCBI36
Celera492,508,848 - 92,509,050RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,949,469 - 90,949,671UniSTS
TNG Radiation Hybrid Map458841.0UniSTS
GeneMap99-GB4 RH Map4468.0UniSTS
SHGC-148190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,164,547 - 95,164,829UniSTSGRCh37
Build 36495,383,570 - 95,383,852RGDNCBI36
Celera492,461,212 - 92,461,494RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,902,282 - 90,902,564UniSTS
TNG Radiation Hybrid Map459102.0UniSTS
PMC33171P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,210,669 - 95,210,965UniSTSGRCh37
Build 36495,429,692 - 95,429,988RGDNCBI36
Celera492,507,793 - 92,508,089RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,948,414 - 90,948,710UniSTS
SMARCAD1__1204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,211,331 - 95,212,227UniSTSGRCh37
Build 36495,430,354 - 95,431,250RGDNCBI36
Celera492,508,455 - 92,509,351RGD
HuRef490,949,076 - 90,949,972UniSTS
SHGC-24763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,158,490 - 95,158,639UniSTSGRCh37
Build 36495,377,513 - 95,377,662RGDNCBI36
Celera492,455,154 - 92,455,303RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,896,218 - 90,896,367UniSTS
GeneMap99-GB4 RH Map4476.72UniSTS
Whitehead-RH Map4522.5UniSTS
NCBI RH Map41092.2UniSTS
GeneMap99-G3 RH Map44553.0UniSTS
RH71145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,212,313 - 95,212,406UniSTSGRCh37
Build 36495,431,336 - 95,431,429RGDNCBI36
Celera492,509,437 - 92,509,530RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,950,058 - 90,950,151UniSTS
GeneMap99-GB4 RH Map4472.07UniSTS
NCBI RH Map41092.2UniSTS
WI-19794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,212,104 - 95,212,402UniSTSGRCh37
Build 36495,431,127 - 95,431,425RGDNCBI36
Celera492,509,228 - 92,509,526RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,949,849 - 90,950,147UniSTS
GeneMap99-GB4 RH Map4476.93UniSTS
Whitehead-RH Map4522.2UniSTS
NCBI RH Map41092.2UniSTS
SHGC-68102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,212,159 - 95,212,403UniSTSGRCh37
Build 36495,431,182 - 95,431,426RGDNCBI36
Celera492,509,283 - 92,509,527RGD
Cytogenetic Map4q22-q23UniSTS
HuRef490,949,904 - 90,950,148UniSTS
TNG Radiation Hybrid Map458832.0UniSTS
GeneMap99-GB4 RH Map4469.6UniSTS
NCBI RH Map41092.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1467 996 1224 199 1093 90 3024 639 1747 266 1333 1387 123 884 1664 4
Low 971 1867 502 425 733 375 1332 1556 1987 153 127 226 52 1 319 1124 2 2
Below cutoff 127 125 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007057943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007057944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007057945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007057946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB032948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL704040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY008271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA798320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB207879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000354268   ⟹   ENSP00000346217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,207,865 - 94,291,292 (+)Ensembl
RefSeq Acc Id: ENST00000359052   ⟹   ENSP00000351947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,207,611 - 94,291,290 (+)Ensembl
RefSeq Acc Id: ENST00000394961   ⟹   ENSP00000378413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,208,084 - 94,289,899 (+)Ensembl
RefSeq Acc Id: ENST00000457823   ⟹   ENSP00000415576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,207,845 - 94,290,821 (+)Ensembl
RefSeq Acc Id: ENST00000506089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,264,528 - 94,273,700 (+)Ensembl
RefSeq Acc Id: ENST00000509418   ⟹   ENSP00000423286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,253,294 - 94,289,704 (+)Ensembl
RefSeq Acc Id: ENST00000510105   ⟹   ENSP00000424624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,207,866 - 94,277,159 (+)Ensembl
RefSeq Acc Id: ENST00000514232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,270,567 - 94,274,921 (+)Ensembl
RefSeq Acc Id: NM_001128429   ⟹   NP_001121901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
GRCh37495,128,759 - 95,212,443 (+)RGD
Celera492,425,422 - 92,509,567 (+)RGD
HuRef490,866,484 - 90,950,188 (+)RGD
CHM1_1495,105,671 - 95,189,155 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128430   ⟹   NP_001121902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
GRCh37495,128,759 - 95,212,443 (+)RGD
Celera492,425,422 - 92,509,567 (+)RGD
HuRef490,866,484 - 90,950,188 (+)RGD
CHM1_1495,105,434 - 95,189,155 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001254949   ⟹   NP_001241878
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,253,309 - 94,291,292 (+)NCBI
GRCh37495,128,759 - 95,212,443 (+)NCBI
HuRef490,866,484 - 90,950,188 (+)NCBI
CHM1_1495,151,128 - 95,189,155 (+)NCBI
T2T-CHM13v2.0497,568,785 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375855   ⟹   NP_001362784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375856   ⟹   NP_001362785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375857   ⟹   NP_001362786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375858   ⟹   NP_001362787
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375859   ⟹   NP_001362788
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,253,309 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,568,785 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020159   ⟹   NP_064544
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
GRCh37495,128,759 - 95,212,443 (+)RGD
Build 36495,348,217 - 95,431,466 (+)NCBI Archive
Celera492,425,422 - 92,509,567 (+)RGD
HuRef490,866,484 - 90,950,188 (+)RGD
CHM1_1495,105,671 - 95,189,155 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045644
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,208,084 - 94,291,292 (+)NCBI
GRCh37495,128,759 - 95,212,443 (+)NCBI
HuRef490,866,484 - 90,950,188 (+)NCBI
CHM1_1495,105,910 - 95,189,155 (+)NCBI
T2T-CHM13v2.0497,523,556 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164722
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164723
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164724
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164725
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164726
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164727
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164728
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164729
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164730
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164731
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164732
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164733
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164734
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164735
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164736
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,080 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164737
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454154   ⟹   XP_024309922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,291,292 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047415987   ⟹   XP_047271943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,241,045 - 94,291,292 (+)NCBI
RefSeq Acc Id: XM_054350548   ⟹   XP_054206523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0497,523,337 - 97,606,799 (+)NCBI
RefSeq Acc Id: XM_054350549   ⟹   XP_054206524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0497,556,517 - 97,606,799 (+)NCBI
RefSeq Acc Id: XR_007057943
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,270,819 (+)NCBI
RefSeq Acc Id: XR_007057944
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,268,244 (+)NCBI
RefSeq Acc Id: XR_007057945
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,270,819 (+)NCBI
RefSeq Acc Id: XR_007057946
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,270,819 (+)NCBI
RefSeq Acc Id: XR_008487016
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0497,523,080 - 97,586,312 (+)NCBI
RefSeq Acc Id: XR_008487017
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0497,523,080 - 97,586,214 (+)NCBI
RefSeq Acc Id: XR_008487018
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0497,523,337 - 97,586,312 (+)NCBI
RefSeq Acc Id: XR_008487019
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0497,523,337 - 97,586,312 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001121901 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121902 (Get FASTA)   NCBI Sequence Viewer  
  NP_001241878 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362784 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362785 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362786 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362787 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362788 (Get FASTA)   NCBI Sequence Viewer  
  NP_064544 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309922 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271943 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206523 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206524 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG16639 (Get FASTA)   NCBI Sequence Viewer  
  AAH17953 (Get FASTA)   NCBI Sequence Viewer  
  AAH45534 (Get FASTA)   NCBI Sequence Viewer  
  BAA86436 (Get FASTA)   NCBI Sequence Viewer  
  BAB14759 (Get FASTA)   NCBI Sequence Viewer  
  BAB55150 (Get FASTA)   NCBI Sequence Viewer  
  BAH13535 (Get FASTA)   NCBI Sequence Viewer  
  CAB95769 (Get FASTA)   NCBI Sequence Viewer  
  CAC21685 (Get FASTA)   NCBI Sequence Viewer  
  EAX06049 (Get FASTA)   NCBI Sequence Viewer  
  EAX06050 (Get FASTA)   NCBI Sequence Viewer  
  EAX06051 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000346217
  ENSP00000346217.4
  ENSP00000351947
  ENSP00000351947.4
  ENSP00000378413.2
  ENSP00000415576
  ENSP00000415576.2
  ENSP00000423286
  ENSP00000423286.1
  ENSP00000424624.1
GenBank Protein Q9H4L7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001121902   ⟸   NM_001128430
- Peptide Label: isoform a
- UniProtKB: Q9H4L7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121901   ⟸   NM_001128429
- Peptide Label: isoform a
- UniProtKB: Q9H4L7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_064544   ⟸   NM_020159
- Peptide Label: isoform b
- UniProtKB: Q9NPU9 (UniProtKB/Swiss-Prot),   Q9H860 (UniProtKB/Swiss-Prot),   Q9H017 (UniProtKB/Swiss-Prot),   Q96SX1 (UniProtKB/Swiss-Prot),   Q05D56 (UniProtKB/Swiss-Prot),   B7Z799 (UniProtKB/Swiss-Prot),   Q9ULU7 (UniProtKB/Swiss-Prot),   Q9H4L7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001241878   ⟸   NM_001254949
- Peptide Label: isoform c
- UniProtKB: Q9H4L7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309922   ⟸   XM_024454154
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001362784   ⟸   NM_001375855
- Peptide Label: isoform b
- UniProtKB: Q9NPU9 (UniProtKB/Swiss-Prot),   Q9H860 (UniProtKB/Swiss-Prot),   Q9H4L7 (UniProtKB/Swiss-Prot),   Q9H017 (UniProtKB/Swiss-Prot),   Q96SX1 (UniProtKB/Swiss-Prot),   Q05D56 (UniProtKB/Swiss-Prot),   B7Z799 (UniProtKB/Swiss-Prot),   Q9ULU7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001362787   ⟸   NM_001375858
- Peptide Label: isoform e
RefSeq Acc Id: NP_001362786   ⟸   NM_001375857
- Peptide Label: isoform d
RefSeq Acc Id: NP_001362785   ⟸   NM_001375856
- Peptide Label: isoform b
- UniProtKB: Q9NPU9 (UniProtKB/Swiss-Prot),   Q9H860 (UniProtKB/Swiss-Prot),   Q9H4L7 (UniProtKB/Swiss-Prot),   Q9H017 (UniProtKB/Swiss-Prot),   Q96SX1 (UniProtKB/Swiss-Prot),   Q05D56 (UniProtKB/Swiss-Prot),   B7Z799 (UniProtKB/Swiss-Prot),   Q9ULU7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001362788   ⟸   NM_001375859
- Peptide Label: isoform f
RefSeq Acc Id: ENSP00000351947   ⟸   ENST00000359052
RefSeq Acc Id: ENSP00000423286   ⟸   ENST00000509418
RefSeq Acc Id: ENSP00000415576   ⟸   ENST00000457823
RefSeq Acc Id: ENSP00000424624   ⟸   ENST00000510105
RefSeq Acc Id: ENSP00000346217   ⟸   ENST00000354268
RefSeq Acc Id: ENSP00000378413   ⟸   ENST00000394961
RefSeq Acc Id: XP_047271943   ⟸   XM_047415987
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206523   ⟸   XM_054350548
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054206524   ⟸   XM_054350549
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H4L7-F1-model_v2 AlphaFold Q9H4L7 1-1026 view protein structure

Promoters
RGD ID:6868050
Promoter ID:EPDNEW_H7190
Type:initiation region
Name:SMARCAD1_2
Description:SWI/SNF-related, matrix-associated actin-dependent regulatorof chromatin, subfamily a, containing DEAD/H box 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7191  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,608 - 94,207,668EPDNEW
RGD ID:6868052
Promoter ID:EPDNEW_H7191
Type:initiation region
Name:SMARCAD1_1
Description:SWI/SNF-related, matrix-associated actin-dependent regulatorof chromatin, subfamily a, containing DEAD/H box 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7190  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,207,865 - 94,207,925EPDNEW
RGD ID:6802654
Promoter ID:HG_KWN:48749
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:ENST00000394961,   NM_001128430,   NM_020159,   OTTHUMT00000253582,   UC010ILA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36495,347,746 - 95,348,246 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18398 AgrOrtholog
COSMIC SMARCAD1 COSMIC
Ensembl Genes ENSG00000163104 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354268 ENTREZGENE
  ENST00000354268.9 UniProtKB/Swiss-Prot
  ENST00000359052 ENTREZGENE
  ENST00000359052.8 UniProtKB/Swiss-Prot
  ENST00000394961.6 UniProtKB/TrEMBL
  ENST00000457823 ENTREZGENE
  ENST00000457823.6 UniProtKB/Swiss-Prot
  ENST00000509418 ENTREZGENE
  ENST00000509418.1 UniProtKB/Swiss-Prot
  ENST00000510105.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10810 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000163104 GTEx
HGNC ID HGNC:18398 ENTREZGENE
Human Proteome Map SMARCAD1 Human Proteome Map
InterPro CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot
  Helicase_C UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  SNF2-like_sf UniProtKB/Swiss-Prot
  SNF2_N UniProtKB/Swiss-Prot
KEGG Report hsa:56916 UniProtKB/Swiss-Prot
NCBI Gene 56916 ENTREZGENE
OMIM 612761 OMIM
PANTHER SNF2/RAD54 HELICASE FAMILY UniProtKB/Swiss-Prot
  SWI/SNF-RELATED MATRIX-ASSOCIATED ACTIN-DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY A CONTAINING DEAD/H BOX 1 UniProtKB/Swiss-Prot
Pfam Helicase_C UniProtKB/Swiss-Prot
  SNF2_N UniProtKB/Swiss-Prot
PharmGKB PA134954731 PharmGKB
PROSITE CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot
  HELICASE_CTER UniProtKB/Swiss-Prot
SMART DEXDc UniProtKB/Swiss-Prot
  HELICc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt B7Z799 ENTREZGENE
  D6RAY8_HUMAN UniProtKB/TrEMBL
  F8W9M2_HUMAN UniProtKB/TrEMBL
  Q05D56 ENTREZGENE
  Q96SX1 ENTREZGENE
  Q9H017 ENTREZGENE
  Q9H4L7 ENTREZGENE
  Q9H860 ENTREZGENE
  Q9NPU9 ENTREZGENE
  Q9ULU7 ENTREZGENE
  SMRCD_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7Z799 UniProtKB/Swiss-Prot
  Q05D56 UniProtKB/Swiss-Prot
  Q96SX1 UniProtKB/Swiss-Prot
  Q9H017 UniProtKB/Swiss-Prot
  Q9H860 UniProtKB/Swiss-Prot
  Q9NPU9 UniProtKB/Swiss-Prot
  Q9ULU7 UniProtKB/Swiss-Prot