SLFN12L (schlafen family member 12 like) - Rat Genome Database

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Gene: SLFN12L (schlafen family member 12 like) Homo sapiens
Analyze
Symbol: SLFN12L
Name: schlafen family member 12 like
RGD ID: 2291763
HGNC Page HGNC:33920
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AC015911.11; FLJ23922; novel transcript; schlafen family member 12-like
RGD Orthologs
Rat
Bonobo
Green Monkey
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
GRCh381735,464,254 - 35,537,678 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1735,464,249 - 35,537,683 (-)EnsemblGRCh38hg38GRCh38
GRCh371733,791,273 - 33,864,697 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361730,822,269 - 30,888,993 (-)NCBINCBI36Build 36hg18NCBI36
Celera1730,708,342 - 30,775,018 (-)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1729,986,904 - 29,999,709 (-)NCBIHuRef
CHM1_11733,866,214 - 33,879,034 (-)NCBICHM1_1
T2T-CHM13v2.01736,412,245 - 36,485,638 (-)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
membrane  (IEA)

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:9846487   PMID:14569139   PMID:14702039   PMID:16344560   PMID:16625196   PMID:20045101   PMID:20379614   PMID:20800221   PMID:21145461   PMID:27427984   PMID:30875077   PMID:31586073  


Genomics

Comparative Map Data
SLFN12L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381735,464,254 - 35,537,678 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1735,464,249 - 35,537,683 (-)EnsemblGRCh38hg38GRCh38
GRCh371733,791,273 - 33,864,697 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361730,822,269 - 30,888,993 (-)NCBINCBI36Build 36hg18NCBI36
Celera1730,708,342 - 30,775,018 (-)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1729,986,904 - 29,999,709 (-)NCBIHuRef
CHM1_11733,866,214 - 33,879,034 (-)NCBICHM1_1
T2T-CHM13v2.01736,412,245 - 36,485,638 (-)NCBIT2T-CHM13v2.0
Slfn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81068,450,861 - 68,457,198 (+)NCBIGRCr8
mRatBN7.21067,953,322 - 67,959,659 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1067,953,171 - 67,959,458 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1072,573,354 - 72,579,691 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01072,078,736 - 72,085,073 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01067,542,782 - 67,549,119 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01070,370,381 - 70,376,718 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1070,370,300 - 70,376,331 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01070,001,084 - 70,007,628 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41071,236,408 - 71,242,745 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11071,248,325 - 71,279,012 (+)NCBI
Celera1066,897,016 - 66,903,353 (+)NCBICelera
Cytogenetic Map10q26NCBI
SLFN12L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21928,936,467 - 29,009,032 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11730,817,469 - 30,890,008 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01721,256,494 - 21,318,659 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11721,550,104 - 21,611,943 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1721,599,330 - 21,611,851 (+)Ensemblpanpan1.1panPan2
SLFN12L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11628,947,024 - 28,969,178 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666075962,054 - 1,034,267 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SLFN12L
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q12(chr17:35129859-35767049)x3 copy number gain See cases [RCV000136983] Chr17:35129859..35767049 [GRCh38]
Chr17:33456878..34094068 [GRCh37]
Chr17:30480991..31118181 [NCBI36]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q12(chr17:33498726-33863479)x1 copy number loss See cases [RCV000510830] Chr17:33498726..33863479 [GRCh37]
Chr17:17q12
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q12(chr17:32351496-34455576)x1 copy number loss not provided [RCV000683918] Chr17:32351496..34455576 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001363830.2(SLFN12L):c.757A>T (p.Thr253Ser) single nucleotide variant not provided [RCV000947810] Chr17:35479525 [GRCh38]
Chr17:33806544 [GRCh37]
Chr17:17q12
benign
NM_001363830.2(SLFN12L):c.271T>A (p.Cys91Ser) single nucleotide variant not provided [RCV000974297] Chr17:35480011 [GRCh38]
Chr17:33807030 [GRCh37]
Chr17:17q12
benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
GRCh37/hg19 17q12(chr17:33073917-33863479)x1 copy number loss not provided [RCV001006894] Chr17:33073917..33863479 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1505A>G (p.His502Arg) single nucleotide variant not specified [RCV004683921] Chr17:35475257 [GRCh38]
Chr17:33802276 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1168T>C (p.Cys390Arg) single nucleotide variant not specified [RCV004683920] Chr17:35478183 [GRCh38]
Chr17:33805202 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1792C>T (p.Arg598Cys) single nucleotide variant not specified [RCV004683919] Chr17:35474970 [GRCh38]
Chr17:33801989 [GRCh37]
Chr17:17q12
likely benign
NC_000017.10:g.(?_33475283)_(34079869_?)dup duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV003110947] Chr17:33475283..34079869 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:33766040-34001896)x3 copy number gain Isolated anorectal malformation [RCV002286602] Chr17:33766040..34001896 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1579A>C (p.Ile527Leu) single nucleotide variant not specified [RCV004219478] Chr17:35475183 [GRCh38]
Chr17:33802202 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1001T>A (p.Val334Glu) single nucleotide variant not specified [RCV004221689] Chr17:35479281 [GRCh38]
Chr17:33806300 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1181C>T (p.Pro394Leu) single nucleotide variant not specified [RCV004146135] Chr17:35478170 [GRCh38]
Chr17:33805189 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1442A>G (p.His481Arg) single nucleotide variant not specified [RCV004204131] Chr17:35475320 [GRCh38]
Chr17:33802339 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1508T>G (p.Met503Arg) single nucleotide variant not specified [RCV004111053] Chr17:35475254 [GRCh38]
Chr17:33802273 [GRCh37]
Chr17:17q12
likely benign
NM_001363830.2(SLFN12L):c.1738C>T (p.Leu580Phe) single nucleotide variant not specified [RCV004075869] Chr17:35475024 [GRCh38]
Chr17:33802043 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1229G>A (p.Arg410His) single nucleotide variant not specified [RCV004201342] Chr17:35478122 [GRCh38]
Chr17:33805141 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1460C>A (p.Ala487Asp) single nucleotide variant not specified [RCV004164986] Chr17:35475302 [GRCh38]
Chr17:33802321 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1718T>C (p.Met573Thr) single nucleotide variant not specified [RCV004189730] Chr17:35475044 [GRCh38]
Chr17:33802063 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.641A>C (p.Gln214Pro) single nucleotide variant not specified [RCV004092458] Chr17:35479641 [GRCh38]
Chr17:33806660 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1553A>G (p.Gln518Arg) single nucleotide variant not specified [RCV004108749] Chr17:35475209 [GRCh38]
Chr17:33802228 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1483C>G (p.Pro495Ala) single nucleotide variant not specified [RCV004137801] Chr17:35475279 [GRCh38]
Chr17:33802298 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1509G>A (p.Met503Ile) single nucleotide variant not specified [RCV004276840] Chr17:35475253 [GRCh38]
Chr17:33802272 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) copy number loss Chromosome 17q12 deletion syndrome [RCV003319594] Chr17:30572862..35843988 [GRCh37]
Chr17:17q11.2-12
pathogenic
NM_001363830.2(SLFN12L):c.1259T>A (p.Leu420Gln) single nucleotide variant not specified [RCV004355945] Chr17:35478092 [GRCh38]
Chr17:33805111 [GRCh37]
Chr17:17q12
likely benign
NM_001363830.2(SLFN12L):c.1037C>T (p.Ala346Val) single nucleotide variant not specified [RCV004356383] Chr17:35479245 [GRCh38]
Chr17:33806264 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:33758250-34082140)x3 copy number gain not provided [RCV003485152] Chr17:33758250..34082140 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:33769812-33983362)x3 copy number gain not provided [RCV003485153] Chr17:33769812..33983362 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:33316754-33890206)x1 copy number loss not specified [RCV003987224] Chr17:33316754..33890206 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.201G>C (p.Glu67Asp) single nucleotide variant not specified [RCV004457267] Chr17:35480081 [GRCh38]
Chr17:33807100 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1410C>A (p.Ser470Arg) single nucleotide variant not specified [RCV004457268] Chr17:35475352 [GRCh38]
Chr17:33802371 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.419A>T (p.Gln140Leu) single nucleotide variant not specified [RCV004457273] Chr17:35479863 [GRCh38]
Chr17:33806882 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.692A>T (p.Glu231Val) single nucleotide variant not specified [RCV004457275] Chr17:35479590 [GRCh38]
Chr17:33806609 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.823G>T (p.Asp275Tyr) single nucleotide variant not specified [RCV004457276] Chr17:35479459 [GRCh38]
Chr17:33806478 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.173T>C (p.Leu58Pro) single nucleotide variant not specified [RCV004457266] Chr17:35480109 [GRCh38]
Chr17:33807128 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.302T>C (p.Ile101Thr) single nucleotide variant not specified [RCV004457272] Chr17:35479980 [GRCh38]
Chr17:33806999 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.691G>A (p.Glu231Lys) single nucleotide variant not specified [RCV004457274] Chr17:35479591 [GRCh38]
Chr17:33806610 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1484C>T (p.Pro495Leu) single nucleotide variant not specified [RCV004457269] Chr17:35475278 [GRCh38]
Chr17:33802297 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1687G>C (p.Glu563Gln) single nucleotide variant not specified [RCV004457270] Chr17:35475075 [GRCh38]
Chr17:33802094 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.1793G>A (p.Arg598His) single nucleotide variant not specified [RCV004457271] Chr17:35474969 [GRCh38]
Chr17:33801988 [GRCh37]
Chr17:17q12
uncertain significance
NC_000017.10:g.(?_33445500)_(34079869_?)del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV004581340] Chr17:33445500..34079869 [GRCh37]
Chr17:17q12
pathogenic
NM_001363830.2(SLFN12L):c.143A>T (p.Asp48Val) single nucleotide variant not specified [RCV004667459] Chr17:35480139 [GRCh38]
Chr17:33807158 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.569A>G (p.Asp190Gly) single nucleotide variant not specified [RCV004667458] Chr17:35479713 [GRCh38]
Chr17:33806732 [GRCh37]
Chr17:17q12
uncertain significance
NM_001363830.2(SLFN12L):c.292G>A (p.Gly98Arg) single nucleotide variant not specified [RCV004667460] Chr17:35479990 [GRCh38]
Chr17:33807009 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1352
Count of miRNA genes:599
Interacting mature miRNAs:659
Transcripts:ENST00000260908, ENST00000361112, ENST00000449046, ENST00000587436, ENST00000590802
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407368772GWAS1017748_Hblood protein measurement QTL GWAS1017748 (human)4e-31blood protein measurementblood protein measurement (CMO:0000028)173546867935468680Human
407267535GWAS916511_Hlymphocyte count QTL GWAS916511 (human)6e-10lymphocyte countblood lymphocyte count (CMO:0000031)173546767835467679Human
406915144GWAS564120_Hsoluble triggering receptor expressed on myeloid cells 2 measurement QTL GWAS564120 (human)0.000001soluble triggering receptor expressed on myeloid cells 2 measurement173549838435498385Human
407265869GWAS914845_Hblood protein measurement QTL GWAS914845 (human)2e-09blood protein measurementblood protein measurement (CMO:0000028)173547871135478712Human
407264075GWAS913051_Hleukocyte count QTL GWAS913051 (human)8e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173546767835467679Human
407264072GWAS913048_Hleukocyte count QTL GWAS913048 (human)2e-08leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173546924135469242Human
407208919GWAS857895_Hleukocyte count QTL GWAS857895 (human)4e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173546924135469242Human
407128919GWAS777895_Hunipolar depression QTL GWAS777895 (human)0.000002unipolar depression173551649335516494Human
407128400GWAS777376_Hskin pigmentation QTL GWAS777376 (human)0.0000008skin pigmentation trait (VT:0002095)173549607935496080Human
407182172GWAS831148_Hlymphocyte measurement QTL GWAS831148 (human)1e-16lymphocyte measurement173548773935487740Human
407194590GWAS843566_Hlymphocyte measurement QTL GWAS843566 (human)3e-32lymphocyte measurement173547657335476574Human
407150047GWAS799023_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS799023 (human)0.000007Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)173549751235497513Human
407400150GWAS1049126_Hlymphocyte count QTL GWAS1049126 (human)4e-10lymphocyte countblood lymphocyte count (CMO:0000031)173548773935487740Human
407211994GWAS860970_Hlymphocyte count QTL GWAS860970 (human)3e-09lymphocyte countblood lymphocyte count (CMO:0000031)173546767835467679Human
407084124GWAS733100_Hobsolete_red blood cell distribution width QTL GWAS733100 (human)2e-15obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)173552915635529157Human
407183842GWAS832818_Hlymphocyte measurement QTL GWAS832818 (human)3e-19lymphocyte measurement173547657335476574Human
407209710GWAS858686_Hleukocyte count QTL GWAS858686 (human)1e-12leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173547035235470353Human
407209716GWAS858692_Hleukocyte count QTL GWAS858692 (human)1e-15leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173547035235470353Human
407208308GWAS857284_Hleukocyte count QTL GWAS857284 (human)9e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173547871135478712Human
407162866GWAS811842_Hneutrophil count QTL GWAS811842 (human)2e-09neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)173548773935487740Human
407209714GWAS858690_Hleukocyte count QTL GWAS858690 (human)9e-17leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173547035235470353Human
407264497GWAS913473_Hlymphocyte count QTL GWAS913473 (human)1e-10lymphocyte countblood lymphocyte count (CMO:0000031)173547657335476574Human
407372017GWAS1020993_Hblood protein measurement QTL GWAS1020993 (human)4e-146blood protein measurementblood protein measurement (CMO:0000028)173547984435479845Human
407272185GWAS921161_Heosinophil percentage of leukocytes QTL GWAS921161 (human)1e-17eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)173549228335492284Human
407195014GWAS843990_Hmyeloid white cell count QTL GWAS843990 (human)3e-11myeloid white cell countwhite blood cell count (CMO:0000027)173547657335476574Human
407209997GWAS858973_Hleukocyte count QTL GWAS858973 (human)7e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173547035235470353Human
407250702GWAS899678_Heosinophil count QTL GWAS899678 (human)1e-15eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)173549228335492284Human
407267213GWAS916189_Hmyeloid white cell count QTL GWAS916189 (human)2e-08myeloid white cell countwhite blood cell count (CMO:0000027)173547035235470353Human
407209993GWAS858969_Hleukocyte count QTL GWAS858969 (human)2e-23leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173547035235470353Human
407264276GWAS913252_Hlymphocyte count QTL GWAS913252 (human)6e-12lymphocyte countblood lymphocyte count (CMO:0000031)173546767835467679Human
407269396GWAS918372_Hleukocyte count QTL GWAS918372 (human)6e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173547035235470353Human
406971031GWAS620007_Hgranulysin measurement QTL GWAS620007 (human)3e-13granulysin measurement173546768535467686Human
407274513GWAS923489_Heosinophil count QTL GWAS923489 (human)2e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)173549228335492284Human
407060637GWAS709613_Hneutrophil count QTL GWAS709613 (human)1e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)173548773935487740Human
407269401GWAS918377_Hleukocyte count QTL GWAS918377 (human)3e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173546924135469242Human
407208613GWAS857589_Hleukocyte count QTL GWAS857589 (human)2e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173547035235470353Human
407234085GWAS883061_Hmacrophage inflammatory protein 1b measurement QTL GWAS883061 (human)8e-15macrophage inflammatory protein 1b measurement173550856835508569Human
407288871GWAS937847_HCk-beta-8-1 measurement QTL GWAS937847 (human)1e-16Ck-beta-8-1 measurement173552285035522851Human
407403819GWAS1052795_Hlymphocyte count QTL GWAS1052795 (human)6e-11lymphocyte countblood lymphocyte count (CMO:0000031)173548773935487740Human
407368483GWAS1017459_Hblood protein measurement QTL GWAS1017459 (human)1e-45blood protein measurementblood protein measurement (CMO:0000028)173546867935468680Human
407403820GWAS1052796_Hlymphocyte count QTL GWAS1052796 (human)4e-09lymphocyte countblood lymphocyte count (CMO:0000031)173548773935487740Human
407336236GWAS985212_Heosinophil count QTL GWAS985212 (human)4e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)173549228335492284Human
407288874GWAS937850_HCk-beta-8-1 measurement QTL GWAS937850 (human)3e-13Ck-beta-8-1 measurement173548386435483865Human
407271336GWAS920312_Heosinophil count QTL GWAS920312 (human)1e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)173549228335492284Human
407208618GWAS857594_Hleukocyte count QTL GWAS857594 (human)2e-08leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173546767835467679Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407403325GWAS1052301_Hleukocyte count QTL GWAS1052301 (human)3e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)173548773935487740Human
407403327GWAS1052303_Hleukocyte count QTL GWAS1052303 (human)2e-08leukocyte quantity (VT:0000217)blood lymphocyte count (CMO:0000031)173548773935487740Human
407403828GWAS1052804_Hlymphocyte count QTL GWAS1052804 (human)1e-09lymphocyte countblood lymphocyte count (CMO:0000031)173548773935487740Human

Markers in Region
D17S907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,866,310 - 33,866,639UniSTSGRCh37
Build 361730,890,423 - 30,890,752RGDNCBI36
Celera1730,776,448 - 30,776,773RGD
Cytogenetic Map17q12UniSTS
HuRef1730,051,270 - 30,051,595UniSTS
Marshfield Genetic Map1757.71UniSTS
Marshfield Genetic Map1757.71RGD
RH17438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,821,022 - 33,821,144UniSTSGRCh37
GRCh37620,493,564 - 20,493,686UniSTSGRCh37
Build 36620,601,543 - 20,601,665RGDNCBI36
Celera1730,731,160 - 30,731,282UniSTS
Celera621,726,681 - 21,726,803RGD
Cytogenetic Map17q12UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map17q11-q12UniSTS
HuRef1730,005,972 - 30,006,094UniSTS
HuRef620,437,838 - 20,437,960UniSTS
RH118776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,825,971 - 33,826,249UniSTSGRCh37
Build 361730,850,084 - 30,850,362RGDNCBI36
Celera1730,736,111 - 30,736,389RGD
Cytogenetic Map17q12UniSTS
HuRef1730,010,929 - 30,011,207UniSTS
TNG Radiation Hybrid Map1714331.0UniSTS
D17S583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,838,532 - 33,838,707UniSTSGRCh37
Build 361730,862,645 - 30,862,820RGDNCBI36
Celera1730,748,673 - 30,748,848RGD
Cytogenetic Map17q12UniSTS
HuRef1730,023,479 - 30,023,658UniSTS
WI-22629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,821,017 - 33,821,216UniSTSGRCh37
GRCh37620,493,559 - 20,493,758UniSTSGRCh37
Build 36620,601,538 - 20,601,737RGDNCBI36
Celera621,726,676 - 21,726,875RGD
Celera1730,731,155 - 30,731,354UniSTS
Cytogenetic Map17q11-q12UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map17q12UniSTS
HuRef1730,005,967 - 30,006,166UniSTS
HuRef620,437,833 - 20,438,032UniSTS
GeneMap99-GB4 RH Map685.07UniSTS
Whitehead-RH Map6116.3UniSTS
RH45318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,821,019 - 33,821,138UniSTSGRCh37
GRCh37620,493,561 - 20,493,680UniSTSGRCh37
Build 36620,601,540 - 20,601,659RGDNCBI36
Celera621,726,678 - 21,726,797RGD
Celera1730,731,157 - 30,731,276UniSTS
Cytogenetic Map17q11-q12UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map17q12UniSTS
HuRef1730,005,969 - 30,006,088UniSTS
HuRef620,437,835 - 20,437,954UniSTS
GeneMap99-GB4 RH Map686.52UniSTS
NCBI RH Map6270.2UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2367 2665 2159 4630 1684 2278 4 596 1912 438 2163 6993 6332 49 3504 1 806 1689 1573 170

Sequence


Ensembl Acc Id: ENST00000260908   ⟹   ENSP00000437635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,464,254 - 35,487,857 (-)Ensembl
Ensembl Acc Id: ENST00000587436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,464,249 - 35,478,469 (-)Ensembl
Ensembl Acc Id: ENST00000590802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,464,257 - 35,478,226 (-)Ensembl
Ensembl Acc Id: ENST00000628453   ⟹   ENSP00000487397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,464,254 - 35,537,678 (-)Ensembl
Ensembl Acc Id: ENST00000651507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,474,904 - 35,537,861 (-)Ensembl
Ensembl Acc Id: ENST00000675965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,474,923 - 35,480,513 (-)Ensembl
Ensembl Acc Id: ENST00000714259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,514,719 - 35,537,683 (-)Ensembl
RefSeq Acc Id: NM_001195790   ⟹   NP_001182719
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,464,254 - 35,537,678 (-)NCBI
T2T-CHM13v2.01736,412,245 - 36,485,638 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363830   ⟹   NP_001350759
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,464,254 - 35,537,678 (-)NCBI
T2T-CHM13v2.01736,412,245 - 36,485,638 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001182719 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350759 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAD80167 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000437635
  ENSP00000437635.2
  ENSP00000487397
  ENSP00000487397.4
GenBank Protein Q6IEE8 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Acc Id: ENSP00000487397   ⟸   ENST00000628453
Ensembl Acc Id: ENSP00000437635   ⟸   ENST00000260908
RefSeq Acc Id: NP_001350759   ⟸   NM_001363830
- Peptide Label: isoform 1
- UniProtKB: Q6IEE8 (UniProtKB/Swiss-Prot),   F5H6G3 (UniProtKB/Swiss-Prot),   A0A8I5QCZ1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001182719   ⟸   NM_001195790
- Peptide Label: isoform 2
- UniProtKB: Q6IEE8 (UniProtKB/Swiss-Prot),   F5H6G3 (UniProtKB/Swiss-Prot),   A0A499FJ85 (UniProtKB/TrEMBL)
- Sequence:
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6IEE8-F1-model_v2 AlphaFold Q6IEE8 1-588 view protein structure

Promoters
RGD ID:6794551
Promoter ID:HG_KWN:25788
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000361112
Position:
Human AssemblyChrPosition (strand)Source
Build 361730,888,766 - 30,889,527 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33920 AgrOrtholog
COSMIC SLFN12L COSMIC
Ensembl Genes ENSG00000205045 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSG00000286065 Ensembl
Ensembl Transcript ENST00000260908 ENTREZGENE
  ENST00000260908.13 UniProtKB/TrEMBL
  ENST00000628453 ENTREZGENE
  ENST00000628453.4 UniProtKB/TrEMBL
Gene3D-CATH 3.30.950.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000205045 GTEx
  ENSG00000286065 GTEx
HGNC ID HGNC:33920 ENTREZGENE
Human Proteome Map SLFN12L Human Proteome Map
InterPro Poxin-SLFN/SLFN_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Schlafen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Schlafen_AAA_dom UniProtKB/Swiss-Prot
  Schlafen_AAA_dom_sf UniProtKB/Swiss-Prot
  Schlafen_AlbA_2_dom UniProtKB/TrEMBL
  Schlafen_AlbA_2_dom_sf UniProtKB/TrEMBL
  SLFN_GTPase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100506736 UniProtKB/Swiss-Prot
NCBI Gene SLFN12L ENTREZGENE
OMIM 614956 OMIM
PANTHER PTHR12155 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCHLAFEN FAMILY MEMBER 12-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AlbA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B3R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLFN_GTPase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162403886 PharmGKB
UniProt A0A499FJ85 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5QCZ1 ENTREZGENE, UniProtKB/TrEMBL
  F5H6G3 ENTREZGENE
  Q6IEE8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary F5H6G3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-07 SLFN12L  schlafen family member 12 like  AC015911.11  novel transcript  Data merged from RGD:16571208 737654 PROVISIONAL
2016-04-12 SLFN12L  schlafen family member 12 like    schlafen family member 12-like  Symbol and/or name change 5135510 APPROVED