SLF1 (SMC5-SMC6 complex localization factor 1) - Rat Genome Database

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Gene: SLF1 (SMC5-SMC6 complex localization factor 1) Homo sapiens
Analyze
Symbol: SLF1
Name: SMC5-SMC6 complex localization factor 1
RGD ID: 1312535
HGNC Page HGNC:25408
Description: Enables ubiquitin protein ligase binding activity. Involved in several processes, including positive regulation of cellular component organization; positive regulation of double-strand break repair; and protein localization to site of double-strand break. Located in nucleoplasm and site of double-strand break.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ANKRD32; ankyrin repeat domain 32; ankyrin repeat domain-containing protein 32; BRCT domain containing 1; BRCT domain-containing protein 1; BRCTD1; BRCTx; DKFZp564C0469; DKFZp761C121; SMC5-SMC6 complex localization factor protein 1; smc5/6 localization factor 1
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
GRCh38594,618,231 - 94,697,621 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl594,618,669 - 94,739,436 (+)EnsemblGRCh38hg38GRCh38
GRCh37593,954,374 - 94,033,326 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36594,040,330 - 94,057,338 (+)NCBINCBI36Build 36hg18NCBI36
Build 34594,040,329 - 94,057,110NCBI
Celera589,816,284 - 89,893,469 (+)NCBICelera
Cytogenetic Map5q15NCBI
HuRef589,127,664 - 89,204,854 (+)NCBIHuRef
CHM1_1593,387,020 - 93,464,202 (+)NCBICHM1_1
T2T-CHM13v2.0595,098,399 - 95,182,005 (+)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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11230166   PMID:12477932   PMID:15632077   PMID:16810316   PMID:17589526   PMID:21873635   PMID:22036607   PMID:24981860   PMID:25582440   PMID:25931565   PMID:26186194   PMID:26496610  
PMID:27621083   PMID:28514442   PMID:29656893   PMID:29845934   PMID:30021884   PMID:30804502   PMID:32389690   PMID:32694731   PMID:33961781   PMID:35140242   PMID:36373674   PMID:37071682  


Genomics

Comparative Map Data
SLF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38594,618,231 - 94,697,621 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl594,618,669 - 94,739,436 (+)EnsemblGRCh38hg38GRCh38
GRCh37593,954,374 - 94,033,326 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36594,040,330 - 94,057,338 (+)NCBINCBI36Build 36hg18NCBI36
Build 34594,040,329 - 94,057,110NCBI
Celera589,816,284 - 89,893,469 (+)NCBICelera
Cytogenetic Map5q15NCBI
HuRef589,127,664 - 89,204,854 (+)NCBIHuRef
CHM1_1593,387,020 - 93,464,202 (+)NCBICHM1_1
T2T-CHM13v2.0595,098,399 - 95,182,005 (+)NCBIT2T-CHM13v2.0
Slf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391377,191,207 - 77,283,632 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1377,191,207 - 77,283,592 (-)EnsemblGRCm39 Ensembl
GRCm381377,043,088 - 77,135,513 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1377,043,088 - 77,135,473 (-)EnsemblGRCm38mm10GRCm38
MGSCv371377,182,349 - 77,274,729 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361377,506,638 - 77,554,806 (-)NCBIMGSCv36mm8
Celera1379,368,270 - 79,463,257 (-)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1340.98NCBI
Slf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr828,498,776 - 8,606,251 (-)NCBIGRCr8
mRatBN7.226,767,015 - 6,874,428 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl26,767,015 - 6,867,149 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx213,879,067 - 13,986,283 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0211,978,347 - 12,085,564 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.026,613,410 - 6,719,621 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.024,095,126 - 4,195,819 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl24,095,129 - 4,195,810 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.024,092,109 - 4,193,740 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.424,361,776 - 4,469,805 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.124,436,397 - 4,492,122 (-)NCBI
Celera23,225,433 - 3,326,221 (-)NCBICelera
Cytogenetic Map2q11NCBI
Slf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541817,756,861 - 17,810,663 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541817,756,610 - 17,818,552 (-)NCBIChiLan1.0ChiLan1.0
SLF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2420,684,529 - 20,782,033 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1518,838,281 - 18,935,816 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0520,660,101 - 20,757,072 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1520,817,614 - 20,894,427 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl520,817,614 - 20,884,453 (-)Ensemblpanpan1.1panPan2
SLF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1314,792,851 - 14,877,024 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl314,793,363 - 14,869,755 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha316,131,131 - 16,215,470 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0314,672,489 - 14,756,866 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl314,670,381 - 14,744,679 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1314,635,334 - 14,719,686 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0314,633,850 - 14,718,174 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0314,837,537 - 14,921,894 (-)NCBIUU_Cfam_GSD_1.0
Slf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213170,378,075 - 170,449,166 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365238,563,410 - 8,634,585 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365238,563,662 - 8,634,576 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2101,313,091 - 101,375,607 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12101,286,744 - 101,375,612 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22104,867,972 - 104,919,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1488,497,787 - 88,573,966 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl488,499,373 - 88,576,983 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604937,141,458 - 37,236,741 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474313,337,785 - 13,395,618 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474313,327,544 - 13,394,434 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLF1
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
GRCh38/hg38 5q15(chr5:93405010-97716265)x3 copy number gain See cases [RCV000053285] Chr5:93405010..97716265 [GRCh38]
Chr5:92740716..97051969 [GRCh37]
Chr5:92766472..97077725 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 copy number loss See cases [RCV000053516] Chr5:89081352..104687248 [GRCh38]
Chr5:88377169..104022949 [GRCh37]
Chr5:88412925..104050848 [NCBI36]
Chr5:5q14.3-21.2		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 copy number loss See cases [RCV000053519] Chr5:91386552..98365880 [GRCh38]
Chr5:90682369..97701584 [GRCh37]
Chr5:90718125..97729488 [NCBI36]
Chr5:5q14.3-15		 pathogenic
GRCh38/hg38 5q15(chr5:93078983-95529159)x1 copy number loss See cases [RCV000053521] Chr5:93078983..95529159 [GRCh38]
Chr5:92414689..94864863 [GRCh37]
Chr5:92440445..94890619 [NCBI36]
Chr5:5q15		 pathogenic
GRCh38/hg38 5q15(chr5:94169644-95221372)x3 copy number gain See cases [RCV000135656] Chr5:94169644..95221372 [GRCh38]
Chr5:93505349..94557076 [GRCh37]
Chr5:93531105..94582832 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q15(chr5:94454031-94626426)x1 copy number loss See cases [RCV000137081] Chr5:94454031..94626426 [GRCh38]
Chr5:93789736..93962131 [GRCh37]
Chr5:93815492..93987887 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1		 pathogenic
GRCh38/hg38 5q15(chr5:93812177-94727962)x1 copy number loss See cases [RCV000141420] Chr5:93812177..94727962 [GRCh38]
Chr5:93147883..94063667 [GRCh37]
Chr5:93173639..94089423 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1		 pathogenic
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 copy number loss See cases [RCV000143249] Chr5:93193104..113287795 [GRCh38]
Chr5:92528810..112623492 [GRCh37]
Chr5:92554566..112651391 [NCBI36]
Chr5:5q15-22.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_032290.4(SLF1):c.232A>G (p.Lys78Glu) single nucleotide variant not specified [RCV004316088] Chr5:94630544 [GRCh38]
Chr5:93966249 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.845T>G (p.Met282Arg) single nucleotide variant not specified [RCV004320892] Chr5:94651808 [GRCh38]
Chr5:93987513 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q15(chr5:93907388-94842440)x3 copy number gain not provided [RCV000682581] Chr5:93907388..94842440 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1 copy number loss not provided [RCV000682580] Chr5:91504101..104858348 [GRCh37]
Chr5:5q14.3-21.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q14.3-15(chr5:87512314-95096562)x1 copy number loss not provided [RCV000744913] Chr5:87512314..95096562 [GRCh37]
Chr5:5q14.3-15		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_032290.4(SLF1):c.2146G>C (p.Gly716Arg) single nucleotide variant not provided [RCV000949917] Chr5:94688530 [GRCh38]
Chr5:94688530..94688531 [GRCh38]
Chr5:94024235 [GRCh37]
Chr5:94024235..94024236 [GRCh37]
Chr5:5q15		 benign
NM_032290.4(SLF1):c.2958A>G (p.Leu986=) single nucleotide variant not provided [RCV000899672] Chr5:94695093 [GRCh38]
Chr5:94030798 [GRCh37]
Chr5:5q15		 benign
GRCh37/hg19 5q15(chr5:93519895-93976422)x1 copy number loss not provided [RCV001005702] Chr5:93519895..93976422 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3		 pathogenic
GRCh37/hg19 5q15(chr5:92386982-94865113)x1 copy number loss not provided [RCV000847387] Chr5:92386982..94865113 [GRCh37]
Chr5:5q15		 pathogenic
NM_032290.4(SLF1):c.2005A>G (p.Ile669Val) single nucleotide variant not specified [RCV004313151] Chr5:94686602 [GRCh38]
Chr5:94022307 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.126T>C (p.Asn42=) single nucleotide variant not provided [RCV000953729] Chr5:94629103 [GRCh38]
Chr5:93964808 [GRCh37]
Chr5:5q15		 benign
GRCh37/hg19 5q15(chr5:93524163-95017463)x3 copy number gain not provided [RCV002473451] Chr5:93524163..95017463 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15		 pathogenic
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 copy number gain See cases [RCV001007415] Chr5:87792844..109221844 [GRCh37]
Chr5:5q14.3-21.3		 likely pathogenic
NM_032290.4(SLF1):c.1134G>C (p.Arg378Ser) single nucleotide variant not specified [RCV004313797] Chr5:94654731 [GRCh38]
Chr5:93990436 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) copy number loss not specified [RCV002053511] Chr5:93650000..114969108 [GRCh37]
Chr5:5q15-22.3		 pathogenic
NM_032290.4(SLF1):c.2696G>A (p.Gly899Asp) single nucleotide variant not specified [RCV004683913] Chr5:94694831 [GRCh38]
Chr5:94030536 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1765C>G (p.Pro589Ala) single nucleotide variant not specified [RCV004307140] Chr5:94670946 [GRCh38]
Chr5:94006651 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.3106C>G (p.Pro1036Ala) single nucleotide variant not specified [RCV004192282] Chr5:94695241 [GRCh38]
Chr5:94030946 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2092T>G (p.Ser698Ala) single nucleotide variant not specified [RCV004103626] Chr5:94686689 [GRCh38]
Chr5:94022394 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1603A>C (p.Thr535Pro) single nucleotide variant not specified [RCV004165533] Chr5:94670221 [GRCh38]
Chr5:94005926 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1775T>G (p.Met592Arg) single nucleotide variant not specified [RCV004220373] Chr5:94670956 [GRCh38]
Chr5:94006661 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1615T>G (p.Phe539Val) single nucleotide variant not specified [RCV004181096] Chr5:94670233 [GRCh38]
Chr5:94005938 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1554C>A (p.Ser518Arg) single nucleotide variant not specified [RCV004094525] Chr5:94670172 [GRCh38]
Chr5:94005877 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1804A>C (p.Lys602Gln) single nucleotide variant not specified [RCV004215312] Chr5:94670985 [GRCh38]
Chr5:94006690 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1093A>C (p.Lys365Gln) single nucleotide variant not specified [RCV004192763] Chr5:94654690 [GRCh38]
Chr5:93990395 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1105G>A (p.Asp369Asn) single nucleotide variant not specified [RCV004236174] Chr5:94654702 [GRCh38]
Chr5:93990407 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2862T>G (p.Phe954Leu) single nucleotide variant not specified [RCV004202527] Chr5:94694997 [GRCh38]
Chr5:94030702 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.872A>G (p.Tyr291Cys) single nucleotide variant not specified [RCV004106231] Chr5:94651835 [GRCh38]
Chr5:93987540 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.503C>T (p.Ala168Val) single nucleotide variant not specified [RCV004102123] Chr5:94643344 [GRCh38]
Chr5:93979049 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1177A>G (p.Arg393Gly) single nucleotide variant not specified [RCV004169739] Chr5:94662319 [GRCh38]
Chr5:93998024 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1084A>G (p.Met362Val) single nucleotide variant not specified [RCV004188041] Chr5:94654681 [GRCh38]
Chr5:93990386 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2232A>C (p.Leu744Phe) single nucleotide variant not specified [RCV004124054] Chr5:94688616 [GRCh38]
Chr5:94024321 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.437T>C (p.Leu146Ser) single nucleotide variant not specified [RCV004097097] Chr5:94643278 [GRCh38]
Chr5:93978983 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.349C>T (p.Arg117Cys) single nucleotide variant not specified [RCV004224517] Chr5:94630661 [GRCh38]
Chr5:93966366 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1835A>T (p.Lys612Ile) single nucleotide variant not specified [RCV004161565] Chr5:94678815 [GRCh38]
Chr5:94014520 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2294A>G (p.Asn765Ser) single nucleotide variant not specified [RCV004226797] Chr5:94689481 [GRCh38]
Chr5:94025186 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.438G>T (p.Leu146Phe) single nucleotide variant not specified [RCV004138057] Chr5:94643279 [GRCh38]
Chr5:93978984 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.457G>C (p.Val153Leu) single nucleotide variant not specified [RCV004157547] Chr5:94643298 [GRCh38]
Chr5:93979003 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.3148A>G (p.Met1050Val) single nucleotide variant not specified [RCV004227579] Chr5:94695283 [GRCh38]
Chr5:94030988 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1528A>G (p.Ile510Val) single nucleotide variant not specified [RCV004075750] Chr5:94666020 [GRCh38]
Chr5:94001725 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1360G>A (p.Val454Ile) single nucleotide variant not specified [RCV004245716] Chr5:94663900 [GRCh38]
Chr5:93999605 [GRCh37]
Chr5:5q15		 likely benign
NM_032290.4(SLF1):c.1201A>G (p.Asn401Asp) single nucleotide variant not specified [RCV004242499] Chr5:94662343 [GRCh38]
Chr5:93998048 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.629A>G (p.Asn210Ser) single nucleotide variant not specified [RCV004234063] Chr5:94649488 [GRCh38]
Chr5:93985193 [GRCh37]
Chr5:5q15		 likely benign
NM_032290.4(SLF1):c.2973G>A (p.Met991Ile) single nucleotide variant not specified [RCV004232647] Chr5:94695108 [GRCh38]
Chr5:94030813 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.805A>G (p.Lys269Glu) single nucleotide variant not specified [RCV004148774] Chr5:94651768 [GRCh38]
Chr5:93987473 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2362A>G (p.Lys788Glu) single nucleotide variant not specified [RCV004245290] Chr5:94689549 [GRCh38]
Chr5:94025254 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2932T>G (p.Leu978Val) single nucleotide variant not specified [RCV004195965] Chr5:94695067 [GRCh38]
Chr5:94030772 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2459T>C (p.Val820Ala) single nucleotide variant not specified [RCV004165811] Chr5:94691603 [GRCh38]
Chr5:94027308 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1468T>G (p.Leu490Val) single nucleotide variant not specified [RCV004124855] Chr5:94665960 [GRCh38]
Chr5:94001665 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2669T>C (p.Ile890Thr) single nucleotide variant not specified [RCV004169930] Chr5:94692230 [GRCh38]
Chr5:94027935 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.185C>T (p.Ala62Val) single nucleotide variant not specified [RCV004081760] Chr5:94629162 [GRCh38]
Chr5:93964867 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.902A>G (p.Asp301Gly) single nucleotide variant not specified [RCV004164873] Chr5:94653291 [GRCh38]
Chr5:93988996 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2853A>C (p.Gln951His) single nucleotide variant not specified [RCV004231763] Chr5:94694988 [GRCh38]
Chr5:94030693 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.502G>T (p.Ala168Ser) single nucleotide variant not specified [RCV004102122] Chr5:94643343 [GRCh38]
Chr5:93979048 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1673G>T (p.Trp558Leu) single nucleotide variant not specified [RCV004170999] Chr5:94670854 [GRCh38]
Chr5:94006559 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1580T>G (p.Ile527Ser) single nucleotide variant not specified [RCV004280011] Chr5:94670198 [GRCh38]
Chr5:94005903 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.854C>A (p.Thr285Asn) single nucleotide variant not specified [RCV004271529] Chr5:94651817 [GRCh38]
Chr5:93987522 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.11G>A (p.Gly4Asp) single nucleotide variant not specified [RCV004261226] Chr5:94628821 [GRCh38]
Chr5:93964526 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1300T>A (p.Ser434Thr) single nucleotide variant not specified [RCV004347324] Chr5:94663840 [GRCh38]
Chr5:93999545 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1482G>T (p.Gln494His) single nucleotide variant not specified [RCV004351208] Chr5:94665974 [GRCh38]
Chr5:94001679 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.955G>C (p.Glu319Gln) single nucleotide variant not specified [RCV004336424] Chr5:94653344 [GRCh38]
Chr5:93989049 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2699C>G (p.Pro900Arg) single nucleotide variant not specified [RCV004360709] Chr5:94694834 [GRCh38]
Chr5:94030539 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1040T>C (p.Met347Thr) single nucleotide variant not specified [RCV004346901] Chr5:94654637 [GRCh38]
Chr5:93990342 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q15(chr5:93750745-94125373)x1 copy number loss not provided [RCV003485471] Chr5:93750745..94125373 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.737A>G (p.Gln246Arg) single nucleotide variant not provided [RCV003428556] Chr5:94649596 [GRCh38]
Chr5:93985301 [GRCh37]
Chr5:5q15		 likely benign
NM_032290.4(SLF1):c.2376C>T (p.Pro792=) single nucleotide variant not provided [RCV003428557] Chr5:94689563 [GRCh38]
Chr5:94025268 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q14.3-15(chr5:91884840-93976422)x1 copy number loss not specified [RCV003986567] Chr5:91884840..93976422 [GRCh37]
Chr5:5q14.3-15		 pathogenic
GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1 copy number loss not specified [RCV003986577] Chr5:93828571..123711334 [GRCh37]
Chr5:5q15-23.2		 pathogenic
GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3 copy number gain See cases [RCV004442826] Chr5:89923199..104256041 [GRCh37]
Chr5:5q14.3-21.2		 uncertain significance
NM_032290.4(SLF1):c.2801A>T (p.Asp934Val) single nucleotide variant not specified [RCV004457221] Chr5:94694936 [GRCh38]
Chr5:94030641 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1223A>T (p.Glu408Val) single nucleotide variant not specified [RCV004457214] Chr5:94663763 [GRCh38]
Chr5:93999468 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2528C>T (p.Thr843Met) single nucleotide variant not specified [RCV004457220] Chr5:94692089 [GRCh38]
Chr5:94027794 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.108G>C (p.Lys36Asn) single nucleotide variant not specified [RCV004457213] Chr5:94628918 [GRCh38]
Chr5:93964623 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1523T>G (p.Val508Gly) single nucleotide variant not specified [RCV004457215] Chr5:94666015 [GRCh38]
Chr5:94001720 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1942G>A (p.Asp648Asn) single nucleotide variant not specified [RCV004457217] Chr5:94678922 [GRCh38]
Chr5:94014627 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.429A>G (p.Ile143Met) single nucleotide variant not specified [RCV004457222] Chr5:94630741 [GRCh38]
Chr5:93966446 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.1915A>G (p.Arg639Gly) single nucleotide variant not specified [RCV004457216] Chr5:94678895 [GRCh38]
Chr5:94014600 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2008T>C (p.Cys670Arg) single nucleotide variant not specified [RCV004457218] Chr5:94686605 [GRCh38]
Chr5:94022310 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.2125T>C (p.Tyr709His) single nucleotide variant not specified [RCV004457219] Chr5:94688509 [GRCh38]
Chr5:94024214 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.693T>G (p.Phe231Leu) single nucleotide variant not specified [RCV004667443] Chr5:94649552 [GRCh38]
Chr5:93985257 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.335G>C (p.Arg112Pro) single nucleotide variant not specified [RCV004667444] Chr5:94630647 [GRCh38]
Chr5:93966352 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.218T>C (p.Ile73Thr) single nucleotide variant not specified [RCV004667445] Chr5:94630530 [GRCh38]
Chr5:93966235 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.778A>G (p.Ile260Val) single nucleotide variant not specified [RCV004667441] Chr5:94651741 [GRCh38]
Chr5:93987446 [GRCh37]
Chr5:5q15		 likely benign
NM_032290.4(SLF1):c.2795T>C (p.Ile932Thr) single nucleotide variant not specified [RCV004667442] Chr5:94694930 [GRCh38]
Chr5:94030635 [GRCh37]
Chr5:5q15		 uncertain significance
NM_032290.4(SLF1):c.822T>G (p.Ser274Arg) single nucleotide variant not specified [RCV004352729] Chr5:94651785 [GRCh38]
Chr5:93987490 [GRCh37]
Chr5:5q15		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1491
Count of miRNA genes:795
Interacting mature miRNAs:918
Transcripts:ENST00000265140, ENST00000450932, ENST00000466957, ENST00000475916, ENST00000493934, ENST00000504099, ENST00000508130, ENST00000508383
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406968022GWAS616998_Hbrain connectivity measurement QTL GWAS616998 (human)9e-12brain connectivity measurement59462557194625572Human
407263278GWAS912254_Hbrain measurement QTL GWAS912254 (human)6e-10brain measurementbrain measurement (CMO:0000911)59462520294625204Human
406964810GWAS613786_Hsmoking initiation QTL GWAS613786 (human)5e-08smoking initiation59465988494659885Human
407267565GWAS916541_Hbrain measurement QTL GWAS916541 (human)4e-13brain measurementbrain measurement (CMO:0000911)59465182794651828Human
407049919GWAS698895_Heducational attainment QTL GWAS698895 (human)2e-08educational attainment59468853094688531Human

Markers in Region
A006Q05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37594,031,407 - 94,031,509UniSTSGRCh37
Build 36594,057,163 - 94,057,265RGDNCBI36
Celera589,893,303 - 89,893,405RGD
Cytogenetic Map5q15UniSTS
HuRef589,204,688 - 89,204,790UniSTS
GeneMap99-GB4 RH Map5413.0UniSTS
RH12463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37594,031,369 - 94,031,524UniSTSGRCh37
Build 36594,057,125 - 94,057,280RGDNCBI36
Celera589,893,265 - 89,893,420RGD
Cytogenetic Map5q15UniSTS
HuRef589,204,650 - 89,204,805UniSTS
GeneMap99-GB4 RH Map5415.84UniSTS
R58928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37594,031,122 - 94,031,225UniSTSGRCh37
Build 36594,056,878 - 94,056,981RGDNCBI36
Celera589,893,018 - 89,893,121RGD
Cytogenetic Map5q15UniSTS
HuRef589,204,403 - 89,204,506UniSTS
Whitehead-YAC Contig Map5 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2434 2788 2247 4970 1724 2348 5 622 1949 465 2268 7291 6461 52 3733 851 1737 1613 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_032290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU431750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR001089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265140   ⟹   ENSP00000265140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl594,618,669 - 94,697,621 (+)Ensembl
Ensembl Acc Id: ENST00000450932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl594,678,399 - 94,695,871 (+)Ensembl
Ensembl Acc Id: ENST00000466957   ⟹   ENSP00000430335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl594,628,882 - 94,665,926 (+)Ensembl
Ensembl Acc Id: ENST00000475916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl594,691,195 - 94,692,180 (+)Ensembl
Ensembl Acc Id: ENST00000493934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl594,692,186 - 94,739,436 (+)Ensembl
Ensembl Acc Id: ENST00000504099   ⟹   ENSP00000425022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl594,618,687 - 94,630,704 (+)Ensembl
Ensembl Acc Id: ENST00000508130   ⟹   ENSP00000424232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl594,618,678 - 94,654,751 (+)Ensembl
Ensembl Acc Id: ENST00000508383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl594,618,685 - 94,629,720 (+)Ensembl
RefSeq Acc Id: NM_032290   ⟹   NP_115666
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,669 - 94,697,621 (+)NCBI
GRCh37593,953,086 - 94,033,326 (+)NCBI
Build 36594,040,330 - 94,057,338 (+)NCBI Archive
Celera589,816,284 - 89,893,469 (+)RGD
HuRef589,127,664 - 89,204,854 (+)ENTREZGENE
CHM1_1593,387,020 - 93,464,202 (+)NCBI
T2T-CHM13v2.0595,103,052 - 95,182,005 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009979   ⟹   XP_016865468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,231 - 94,697,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009981   ⟹   XP_016865470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,669 - 94,697,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009983   ⟹   XP_016865472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,663,750 - 94,697,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446235   ⟹   XP_024302003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,669 - 94,697,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446236   ⟹   XP_024302004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,669 - 94,694,821 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446239   ⟹   XP_024302007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,669 - 94,666,024 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417830   ⟹   XP_047273786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,231 - 94,697,621 (+)NCBI
RefSeq Acc Id: XM_047417831   ⟹   XP_047273787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,231 - 94,697,621 (+)NCBI
RefSeq Acc Id: XM_047417832   ⟹   XP_047273788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38594,618,669 - 94,697,621 (+)NCBI
RefSeq Acc Id: XM_054353686   ⟹   XP_054209661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,098,399 - 95,182,005 (+)NCBI
RefSeq Acc Id: XM_054353687   ⟹   XP_054209662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,103,052 - 95,182,005 (+)NCBI
RefSeq Acc Id: XM_054353688   ⟹   XP_054209663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,098,399 - 95,182,005 (+)NCBI
RefSeq Acc Id: XM_054353689   ⟹   XP_054209664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,103,052 - 95,182,005 (+)NCBI
RefSeq Acc Id: XM_054353690   ⟹   XP_054209665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,098,399 - 95,182,005 (+)NCBI
RefSeq Acc Id: XM_054353691   ⟹   XP_054209666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,103,052 - 95,182,005 (+)NCBI
RefSeq Acc Id: XM_054353692   ⟹   XP_054209667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,103,052 - 95,179,205 (+)NCBI
RefSeq Acc Id: XM_054353693   ⟹   XP_054209668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,148,132 - 95,182,005 (+)NCBI
RefSeq Acc Id: XM_054353694   ⟹   XP_054209669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0595,103,052 - 95,150,406 (+)NCBI
Protein Sequences
Protein RefSeqs NP_115666 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865468 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865470 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865472 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302003 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302004 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302007 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273786 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273787 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273788 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209661 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209662 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209663 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209664 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209665 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209666 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209667 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209668 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209669 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH54885 (Get FASTA)   NCBI Sequence Viewer  
  AAH63674 (Get FASTA)   NCBI Sequence Viewer  
  AAH70332 (Get FASTA)   NCBI Sequence Viewer  
  AAI07572 (Get FASTA)   NCBI Sequence Viewer  
  BAG59876 (Get FASTA)   NCBI Sequence Viewer  
  BAG61145 (Get FASTA)   NCBI Sequence Viewer  
  CAB43397 (Get FASTA)   NCBI Sequence Viewer  
  CAB66495 (Get FASTA)   NCBI Sequence Viewer  
  CAG38570 (Get FASTA)   NCBI Sequence Viewer  
  EAW96026 (Get FASTA)   NCBI Sequence Viewer  
  EAW96027 (Get FASTA)   NCBI Sequence Viewer  
  EAW96028 (Get FASTA)   NCBI Sequence Viewer  
  EAW96029 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265140
  ENSP00000265140.5
  ENSP00000424232.1
  ENSP00000425022.1
  ENSP00000430335.1
GenBank Protein Q9BQI6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_115666   ⟸   NM_032290
- UniProtKB: Q6PHW9 (UniProtKB/Swiss-Prot),   Q6NSA5 (UniProtKB/Swiss-Prot),   Q3B7K4 (UniProtKB/Swiss-Prot),   B4DMG4 (UniProtKB/Swiss-Prot),   Q9Y402 (UniProtKB/Swiss-Prot),   Q9BQI6 (UniProtKB/Swiss-Prot),   B4DR33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865468   ⟸   XM_017009979
- Peptide Label: isoform X1
- UniProtKB: Q6NSA5 (UniProtKB/Swiss-Prot),   Q3B7K4 (UniProtKB/Swiss-Prot),   B4DMG4 (UniProtKB/Swiss-Prot),   Q6PHW9 (UniProtKB/Swiss-Prot),   Q9Y402 (UniProtKB/Swiss-Prot),   Q9BQI6 (UniProtKB/Swiss-Prot),   B4DR33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865470   ⟸   XM_017009981
- Peptide Label: isoform X2
- UniProtKB: B4DR33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865472   ⟸   XM_017009983
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024302003   ⟸   XM_024446235
- Peptide Label: isoform X3
- UniProtKB: B4DR33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302004   ⟸   XM_024446236
- Peptide Label: isoform X5
- UniProtKB: B4DR33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302007   ⟸   XM_024446239
- Peptide Label: isoform X7
- Sequence:
Ensembl Acc Id: ENSP00000425022   ⟸   ENST00000504099
Ensembl Acc Id: ENSP00000430335   ⟸   ENST00000466957
Ensembl Acc Id: ENSP00000424232   ⟸   ENST00000508130
Ensembl Acc Id: ENSP00000265140   ⟸   ENST00000265140
RefSeq Acc Id: XP_047273786   ⟸   XM_047417830
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047273787   ⟸   XM_047417831
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047273788   ⟸   XM_047417832
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054209661   ⟸   XM_054353686
- Peptide Label: isoform X1
- UniProtKB: Q9BQI6 (UniProtKB/Swiss-Prot),   Q6PHW9 (UniProtKB/Swiss-Prot),   Q6NSA5 (UniProtKB/Swiss-Prot),   Q3B7K4 (UniProtKB/Swiss-Prot),   B4DMG4 (UniProtKB/Swiss-Prot),   Q9Y402 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054209663   ⟸   XM_054353688
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054209665   ⟸   XM_054353690
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054209662   ⟸   XM_054353687
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054209664   ⟸   XM_054353689
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054209666   ⟸   XM_054353691
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054209667   ⟸   XM_054353692
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054209669   ⟸   XM_054353694
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054209668   ⟸   XM_054353693
- Peptide Label: isoform X6
Protein Domains
BRCT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BQI6-F1-model_v2 AlphaFold Q9BQI6 1-1058 view protein structure

Promoters
RGD ID:6802855
Promoter ID:HG_KWN:50677
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000330190,   UC003KKS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36594,039,876 - 94,040,376 (+)MPROMDB
RGD ID:6802856
Promoter ID:HG_KWN:50679
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3
Transcripts:OTTHUMT00000330192
Position:
Human AssemblyChrPosition (strand)Source
Build 36594,053,386 - 94,053,886 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25408 AgrOrtholog
COSMIC SLF1 COSMIC
Ensembl Genes ENSG00000133302 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265140 ENTREZGENE
  ENST00000265140.10 UniProtKB/Swiss-Prot
  ENST00000466957.1 UniProtKB/TrEMBL
  ENST00000504099.5 UniProtKB/TrEMBL
  ENST00000508130.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.10190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000133302 GTEx
HGNC ID HGNC:25408 ENTREZGENE
Human Proteome Map SLF1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_SLF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Slf1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84250 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84250 ENTREZGENE
OMIM 618467 OMIM
PANTHER PTHR46677 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMC5-SMC6 COMPLEX LOCALIZATION FACTOR PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RTT107_BRCT_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134911523 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DMG4 ENTREZGENE
  B4DR33 ENTREZGENE, UniProtKB/TrEMBL
  D6RED9_HUMAN UniProtKB/TrEMBL
  H0YBU1_HUMAN UniProtKB/TrEMBL
  I6L9F1_HUMAN UniProtKB/TrEMBL
  Q3B7K4 ENTREZGENE
  Q6NSA5 ENTREZGENE
  Q6PHW9 ENTREZGENE
  Q9BQI6 ENTREZGENE
  Q9Y402 ENTREZGENE
  SLF1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DMG4 UniProtKB/Swiss-Prot
  Q3B7K4 UniProtKB/Swiss-Prot
  Q6NSA5 UniProtKB/Swiss-Prot
  Q6PHW9 UniProtKB/Swiss-Prot
  Q9Y402 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 SLF1  SMC5-SMC6 complex localization factor 1  BRCTD1  BRCT domain containing 1  Data merged from RGD:1604470 737654 PROVISIONAL
2015-07-14 SLF1  SMC5-SMC6 complex localization factor 1  ANKRD32  ankyrin repeat domain 32  Symbol and/or name change 5135510 APPROVED