DCLRE1B (DNA cross-link repair 1B) - Rat Genome Database

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Gene: DCLRE1B (DNA cross-link repair 1B) Homo sapiens
Analyze
Symbol: DCLRE1B
Name: DNA cross-link repair 1B
RGD ID: 1321192
HGNC Page HGNC:17641
Description: Enables 5'-3' exonuclease activity; beta-lactamase activity; and protein homodimerization activity. Involved in interstrand cross-link repair; protection from non-homologous end joining at telomere; and telomere maintenance via telomere lengthening. Located in centrosome; chromosome, telomeric region; and nuclear body. Implicated in dyskeratosis congenita.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5' exonuclease Apollo; APOLLO; beta-lactamase DCLRE1B; DKCB8; DKFZp686C24187; DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae); DNA cross-link repair 1B protein; FLJ12810; FLJ13998; PSO2 homolog; SNM1 homolog B; SNM1B; SNMIB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
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
GRCh381113,904,619 - 113,914,086 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1113,904,619 - 113,914,086 (+)EnsemblGRCh38hg38GRCh38
GRCh371114,447,241 - 114,456,708 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361114,249,561 - 114,258,217 (+)NCBINCBI36Build 36hg18NCBI36
Build 341114,160,079 - 114,168,734NCBI
Celera1112,677,139 - 112,685,932 (+)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1112,306,040 - 112,314,841 (+)NCBIHuRef
CHM1_11114,562,775 - 114,571,568 (+)NCBICHM1_1
T2T-CHM13v2.01113,916,281 - 113,925,748 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10848582   PMID:12477932   PMID:14702039   PMID:15467758   PMID:15489334   PMID:15572677   PMID:16344560   PMID:16606622   PMID:16710414   PMID:16730175   PMID:16730176   PMID:18202258  
PMID:18468965   PMID:18469862   PMID:18593705   PMID:19135898   PMID:19197158   PMID:19411856   PMID:20479256   PMID:20655466   PMID:21217703   PMID:21478198   PMID:21873635   PMID:22692201  
PMID:22907656   PMID:23128233   PMID:23189151   PMID:23535729   PMID:23863462   PMID:24270157   PMID:24981860   PMID:26496610   PMID:26582912   PMID:29180619   PMID:29656893   PMID:30804502  
PMID:31391242   PMID:31434986   PMID:32296183   PMID:32694731   PMID:32814053   PMID:33961781   PMID:34373451   PMID:34387694   PMID:34387696   PMID:37936074  


Genomics

Comparative Map Data
DCLRE1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381113,904,619 - 113,914,086 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1113,904,619 - 113,914,086 (+)EnsemblGRCh38hg38GRCh38
GRCh371114,447,241 - 114,456,708 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361114,249,561 - 114,258,217 (+)NCBINCBI36Build 36hg18NCBI36
Build 341114,160,079 - 114,168,734NCBI
Celera1112,677,139 - 112,685,932 (+)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1112,306,040 - 112,314,841 (+)NCBIHuRef
CHM1_11114,562,775 - 114,571,568 (+)NCBICHM1_1
T2T-CHM13v2.01113,916,281 - 113,925,748 (+)NCBIT2T-CHM13v2.0
Dclre1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393103,707,921 - 103,716,703 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3103,707,921 - 103,716,760 (-)EnsemblGRCm39 Ensembl
GRCm383103,800,605 - 103,809,387 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3103,800,605 - 103,809,444 (-)EnsemblGRCm38mm10GRCm38
MGSCv373103,604,528 - 103,613,310 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363103,929,666 - 103,938,448 (-)NCBIMGSCv36mm8
Celera3106,003,520 - 106,012,334 (-)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map345.52NCBI
Dclre1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82193,998,350 - 194,006,873 (-)NCBIGRCr8
mRatBN7.22191,309,909 - 191,318,399 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2191,309,913 - 191,318,423 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2198,906,905 - 198,915,386 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02196,779,634 - 196,788,115 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02191,596,608 - 191,605,089 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02206,285,085 - 206,293,599 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2206,285,089 - 206,293,599 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02225,708,795 - 225,717,309 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42199,025,718 - 199,034,230 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12198,988,471 - 198,996,984 (-)NCBI
Celera2183,781,669 - 183,790,181 (-)NCBICelera
Cytogenetic Map2q34NCBI
Dclre1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543517,173,975 - 17,179,986 (+)NCBIChiLan1.0ChiLan1.0
DCLRE1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21106,564,031 - 106,571,091 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11106,157,486 - 106,164,503 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0188,643,664 - 88,651,962 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11123,692,921 - 123,701,403 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1123,692,915 - 123,701,403 (-)Ensemblpanpan1.1panPan2
DCLRE1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11751,711,267 - 51,716,806 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1751,711,284 - 51,716,345 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1751,362,655 - 51,368,194 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01752,589,546 - 52,595,104 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1752,589,468 - 52,595,469 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11751,596,829 - 51,602,368 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01751,665,109 - 51,670,657 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01752,237,640 - 52,243,174 (+)NCBIUU_Cfam_GSD_1.0
DCLRE1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4106,646,011 - 106,656,452 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14106,646,591 - 106,656,490 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24116,854,880 - 116,861,827 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DCLRE1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12019,750,106 - 19,757,190 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2019,748,898 - 19,756,901 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603822,518,633 - 22,527,397 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in DCLRE1B
139 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000542967] Chr1:113907085 [GRCh38]
Chr1:114449707 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.73C>A (p.Arg25Ser) single nucleotide variant not provided [RCV001725882] Chr1:113905659 [GRCh38]
Chr1:114448281 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12
pathogenic
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_001253852.3(AP4B1):c.-35G>C single nucleotide variant not specified [RCV000145013] Chr1:113904752 [GRCh38]
Chr1:114447374 [GRCh37]
Chr1:1p13.2
likely benign
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=) single nucleotide variant Hereditary spastic paraplegia 47 [RCV000229245]|Inborn genetic diseases [RCV002312958]|not specified [RCV000145024] Chr1:113904649 [GRCh38]
Chr1:114447271 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000640948] Chr1:113911976 [GRCh38]
Chr1:114454598 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.807C>T (p.His269=) single nucleotide variant Fanconi anemia complementation group C [RCV003221328] Chr1:113911399 [GRCh38]
Chr1:114454021 [GRCh37]
Chr1:1p13.2
pathogenic
NM_001253852.3(AP4B1):c.-66C>G single nucleotide variant not specified [RCV000419540] Chr1:113904783 [GRCh38]
Chr1:114447405 [GRCh37]
Chr1:1p13.2
likely benign
NM_006594.5(AP4B1):c.-78C>T single nucleotide variant not specified [RCV000434073] Chr1:113904943 [GRCh38]
Chr1:114447565 [GRCh37]
Chr1:1p13.2
benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022836.4(DCLRE1B):c.1342A>T (p.Arg448Trp) single nucleotide variant Inborn genetic diseases [RCV003271144] Chr1:113911934 [GRCh38]
Chr1:114454556 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) single nucleotide variant DCLRE1B-related condition [RCV003392482]|Hoyeraal-Hreidarsson syndrome [RCV000640945] Chr1:113907024 [GRCh38]
Chr1:114449646 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000640946] Chr1:113911741 [GRCh38]
Chr1:114454363 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1070C>T (p.Pro357Leu) single nucleotide variant Inborn genetic diseases [RCV003261058] Chr1:113911662 [GRCh38]
Chr1:114454284 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000560062] Chr1:113905663 [GRCh38]
Chr1:114448285 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000640950] Chr1:113911439 [GRCh38]
Chr1:114454061 [GRCh37]
Chr1:1p13.2
likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3 copy number gain See cases [RCV000512362] Chr1:114011163..114803749 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del) microsatellite Hoyeraal-Hreidarsson syndrome [RCV000640944] Chr1:113905663..113905665 [GRCh38]
Chr1:114448285..114448287 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) duplication Hoyeraal-Hreidarsson syndrome [RCV000640947] Chr1:113912047..113912048 [GRCh38]
Chr1:114454669..114454670 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000640949] Chr1:113912120 [GRCh38]
Chr1:114454742 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000700662] Chr1:113911484 [GRCh38]
Chr1:114454106 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000704744] Chr1:113905722 [GRCh38]
Chr1:114448344 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000691523] Chr1:113905596 [GRCh38]
Chr1:114448218 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000689595] Chr1:113905723 [GRCh38]
Chr1:114448345 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000702496]|Inborn genetic diseases [RCV003303181] Chr1:113911848 [GRCh38]
Chr1:114454470 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000704958] Chr1:113912053 [GRCh38]
Chr1:114454675 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000705370]|Inborn genetic diseases [RCV002534435] Chr1:113911515 [GRCh38]
Chr1:114454137 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs) indel Hereditary spastic paraplegia 47 [RCV003344024]|Inborn genetic diseases [RCV002313479]|not specified [RCV001192870] Chr1:113904714..113904719 [GRCh38]
Chr1:114447336..114447341 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p13.2(chr1:114209101-114831532)x3 copy number gain not provided [RCV000749141] Chr1:114209101..114831532 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.355+239G>A single nucleotide variant not provided [RCV001678904] Chr1:113907400 [GRCh38]
Chr1:114450022 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.355+52T>A single nucleotide variant not provided [RCV001668927] Chr1:113907213 [GRCh38]
Chr1:114449835 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001394984] Chr1:113908181 [GRCh38]
Chr1:114450803 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001044361] Chr1:113911596 [GRCh38]
Chr1:114454218 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.13G>A (p.Gly5Ser) single nucleotide variant Hereditary spastic paraplegia 47 [RCV001059198] Chr1:113904705 [GRCh38]
Chr1:114447327 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001035217] Chr1:113911552 [GRCh38]
Chr1:114454174 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001036547] Chr1:113911967 [GRCh38]
Chr1:114454589 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001036885] Chr1:113911440 [GRCh38]
Chr1:114454062 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1 copy number loss not provided [RCV001005130] Chr1:114024461..116189135 [GRCh37]
Chr1:1p13.2-13.1
likely pathogenic
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000807886] Chr1:113907080 [GRCh38]
Chr1:114449702 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001424854] Chr1:113907079 [GRCh38]
Chr1:114449701 [GRCh37]
Chr1:1p13.2
likely benign
NM_001253852.3(AP4B1):c.56A>G (p.Asn19Ser) single nucleotide variant Hereditary spastic paraplegia 47 [RCV000802490] Chr1:113904662 [GRCh38]
Chr1:114447284 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000803706] Chr1:113911775 [GRCh38]
Chr1:114454397 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000793746]|Inborn genetic diseases [RCV003279066] Chr1:113911845 [GRCh38]
Chr1:114454467 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000793941] Chr1:113911542 [GRCh38]
Chr1:114454164 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000798393] Chr1:113911538 [GRCh38]
Chr1:114454160 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000821514] Chr1:113911755 [GRCh38]
Chr1:114454377 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001246235] Chr1:113911491 [GRCh38]
Chr1:114454113 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001202897] Chr1:113911281 [GRCh38]
Chr1:114453903 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001223863] Chr1:113908030 [GRCh38]
Chr1:114450652 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001205991] Chr1:113905697 [GRCh38]
Chr1:114448319 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001201472] Chr1:113911471 [GRCh38]
Chr1:114454093 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001219250] Chr1:113908047 [GRCh38]
Chr1:114450669 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001201802] Chr1:113911209 [GRCh38]
Chr1:114453831 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001246543] Chr1:113908100 [GRCh38]
Chr1:114450722 [GRCh37]
Chr1:1p13.2
uncertain significance
NC_000001.10:g.(?_113456513)_(116311162_?)dup duplication RASopathy [RCV003107709] Chr1:113456513..116311162 [GRCh37]
Chr1:1p13.2-13.1
uncertain significance
NM_001319947.2(DCLRE1B):c.-330-177G>T single nucleotide variant not provided [RCV001673819] Chr1:113905292 [GRCh38]
Chr1:114447914 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.355+46T>A single nucleotide variant not provided [RCV001694945] Chr1:113907207 [GRCh38]
Chr1:114449829 [GRCh37]
Chr1:1p13.2
benign
NM_001253852.3(AP4B1):c.49C>T (p.Leu17=) single nucleotide variant Hereditary spastic paraplegia 47 [RCV000868865]|Hereditary spastic paraplegia [RCV001847080] Chr1:113904669 [GRCh38]
Chr1:114447291 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV000974762] Chr1:113911894 [GRCh38]
Chr1:114454516 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001503812] Chr1:113912047 [GRCh38]
Chr1:114454669 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001473343] Chr1:113907049 [GRCh38]
Chr1:114449671 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001207283] Chr1:113907066 [GRCh38]
Chr1:114449688 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001227666] Chr1:113911952 [GRCh38]
Chr1:114454574 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.-12A>G single nucleotide variant not provided [RCV001678418] Chr1:113905575 [GRCh38]
Chr1:114448197 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.355+74A>T single nucleotide variant not provided [RCV001678437] Chr1:113907235 [GRCh38]
Chr1:114449857 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001042559] Chr1:113911344 [GRCh38]
Chr1:114453966 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001319947.2(DCLRE1B):c.-331+281T>C single nucleotide variant not provided [RCV001684466] Chr1:113904989 [GRCh38]
Chr1:114447611 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001053843] Chr1:113911773 [GRCh38]
Chr1:114454395 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.355+75A>T single nucleotide variant not provided [RCV001678727] Chr1:113907236 [GRCh38]
Chr1:114449858 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.538+151T>C single nucleotide variant not provided [RCV001669040] Chr1:113908342 [GRCh38]
Chr1:114450964 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001037465] Chr1:113908161 [GRCh38]
Chr1:114450783 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001043016] Chr1:113911521 [GRCh38]
Chr1:114454143 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001216202] Chr1:113908177 [GRCh38]
Chr1:114450799 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001220370]|Inborn genetic diseases [RCV002563005] Chr1:113911536 [GRCh38]
Chr1:114454158 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001060141] Chr1:113907059 [GRCh38]
Chr1:114449681 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001220015] Chr1:113911373 [GRCh38]
Chr1:114453995 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001219103] Chr1:113905627 [GRCh38]
Chr1:114448249 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001236447] Chr1:113911931 [GRCh38]
Chr1:114454553 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001216754] Chr1:113911780 [GRCh38]
Chr1:114454402 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001035139] Chr1:113911650 [GRCh38]
Chr1:114454272 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001071103] Chr1:113911425 [GRCh38]
Chr1:114454047 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001308251] Chr1:113911830 [GRCh38]
Chr1:114454452 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001351070] Chr1:113907086 [GRCh38]
Chr1:114449708 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001304187] Chr1:113911685 [GRCh38]
Chr1:114454307 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001312964] Chr1:113912189 [GRCh38]
Chr1:114454811 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001327866] Chr1:113911740 [GRCh38]
Chr1:114454362 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001314036] Chr1:113911869 [GRCh38]
Chr1:114454491 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001361481] Chr1:113905764 [GRCh38]
Chr1:114448386 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) single nucleotide variant Dyskeratosis congenita, autosomal recessive 8 [RCV002463464]|Hoyeraal-Hreidarsson syndrome [RCV001361631] Chr1:113908125 [GRCh38]
Chr1:114450747 [GRCh37]
Chr1:1p13.2
pathogenic|uncertain significance
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001360840] Chr1:113907147 [GRCh38]
Chr1:114449769 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001364179] Chr1:113912111 [GRCh38]
Chr1:114454733 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001364293] Chr1:113911553 [GRCh38]
Chr1:114454175 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001306541] Chr1:113905774 [GRCh38]
Chr1:114448396 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001367774] Chr1:113912025 [GRCh38]
Chr1:114454647 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001412730] Chr1:113911450 [GRCh38]
Chr1:114454072 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001395794] Chr1:113905601 [GRCh38]
Chr1:114448223 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001316874] Chr1:113911632 [GRCh38]
Chr1:114454254 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001395021] Chr1:113911729 [GRCh38]
Chr1:114454351 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001365851] Chr1:113907032 [GRCh38]
Chr1:114449654 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001521546]|not provided [RCV001692425] Chr1:113907040 [GRCh38]
Chr1:114449662 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001431211] Chr1:113911432 [GRCh38]
Chr1:114454054 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001463372] Chr1:113905721 [GRCh38]
Chr1:114448343 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001466395] Chr1:113911960 [GRCh38]
Chr1:114454582 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001474822] Chr1:113911174 [GRCh38]
Chr1:114453796 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001463976] Chr1:113911324 [GRCh38]
Chr1:114453946 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001447228] Chr1:113912092 [GRCh38]
Chr1:114454714 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001410701] Chr1:113911238 [GRCh38]
Chr1:114453860 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001445505] Chr1:113905739 [GRCh38]
Chr1:114448361 [GRCh37]
Chr1:1p13.2
likely benign
NM_001319947.2(DCLRE1B):c.-330-315C>G single nucleotide variant not provided [RCV001694745] Chr1:113905154 [GRCh38]
Chr1:114447776 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001450437] Chr1:113905598 [GRCh38]
Chr1:114448220 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001481984] Chr1:113911585 [GRCh38]
Chr1:114454207 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001486284] Chr1:113911363 [GRCh38]
Chr1:114453985 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) single nucleotide variant Hereditary spastic paraplegia 47 [RCV001521544]|Hoyeraal-Hreidarsson syndrome [RCV001521545]|not provided [RCV001651069] Chr1:113905767 [GRCh38]
Chr1:114448389 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.355+73_355+74insTA insertion not provided [RCV001613899] Chr1:113907234..113907235 [GRCh38]
Chr1:114449856..114449857 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001459561] Chr1:113908083 [GRCh38]
Chr1:114450705 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001487191] Chr1:113911934 [GRCh38]
Chr1:114454556 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001459222] Chr1:113911345 [GRCh38]
Chr1:114453967 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.355+79A>T single nucleotide variant not provided [RCV001698632] Chr1:113907240 [GRCh38]
Chr1:114449862 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.355+73T>A single nucleotide variant not provided [RCV001683770] Chr1:113907234 [GRCh38]
Chr1:114449856 [GRCh37]
Chr1:1p13.2
benign
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001442162] Chr1:113912026 [GRCh38]
Chr1:114454648 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001478609] Chr1:113911432 [GRCh38]
Chr1:114454054 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.99C>T (p.His33=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001441472] Chr1:113905685 [GRCh38]
Chr1:114448307 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001435613] Chr1:113908172 [GRCh38]
Chr1:114450794 [GRCh37]
Chr1:1p13.2
likely benign
NM_001253852.3(AP4B1):c.52T>G (p.Cys18Gly) single nucleotide variant Hereditary spastic paraplegia 47 [RCV001863930] Chr1:113904666 [GRCh38]
Chr1:114447288 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2
pathogenic
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2
pathogenic
NM_006594.5(AP4B1):c.-77+5G>A single nucleotide variant Hereditary spastic paraplegia [RCV001847494] Chr1:113904937 [GRCh38]
Chr1:114447559 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.67C>A (p.Gln23Lys) single nucleotide variant Hereditary spastic paraplegia 47 [RCV002018370] Chr1:113904651 [GRCh38]
Chr1:114447273 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001961964]|Inborn genetic diseases [RCV002550365] Chr1:113911776 [GRCh38]
Chr1:114454398 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_001253852.3(AP4B1):c.3G>C (p.Met1Ile) single nucleotide variant Hereditary spastic paraplegia 47 [RCV001938031] Chr1:113904715 [GRCh38]
Chr1:114447337 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.190-3C>G single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV002010082] Chr1:113906993 [GRCh38]
Chr1:114449615 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV001954526] Chr1:113911939 [GRCh38]
Chr1:114454561 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.91A>C (p.Asn31His) single nucleotide variant Hereditary spastic paraplegia 47 [RCV001952209] Chr1:113904627 [GRCh38]
Chr1:114447249 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=) single nucleotide variant Hoyeraal-Hreidarsson syndrome [RCV002161217] Chr1:113911345 [GRCh38]
Chr1:114453967 [GRCh37]
Chr1:1p13.2
likely benign
NC_000001.10:g.(?_112318699)_(115576848_?)del deletion Hereditary spastic paraplegia 47 [RCV003109541] Chr1:112318699..115576848 [GRCh37]
Chr1:1p13.2
pathogenic
NC_000001.10:g.(?_111145905)_(114454813_?)del deletion not provided [RCV003113195] Chr1:111145905..114454813 [GRCh37]
Chr1:1p13.3-13.2
pathogenic
NM_022836.4(DCLRE1B):c.426A>T (p.Leu142Phe) single nucleotide variant Dyskeratosis congenita, autosomal recessive 8 [RCV002462817] Chr1:113908079 [GRCh38]
Chr1:114450701 [GRCh37]
Chr1:1p13.2
pathogenic
NM_022836.4(DCLRE1B):c.364C>T (p.Arg122Ter) single nucleotide variant Dyskeratosis congenita, autosomal recessive 8 [RCV002462818] Chr1:113908017 [GRCh38]
Chr1:114450639 [GRCh37]
Chr1:1p13.2
pathogenic
NM_022836.4(DCLRE1B):c.425T>C (p.Leu142Ser) single nucleotide variant Dyskeratosis congenita, autosomal recessive 8 [RCV002462819] Chr1:113908078 [GRCh38]
Chr1:114450700 [GRCh37]
Chr1:1p13.2
pathogenic
NM_001253852.3(AP4B1):c.59C>T (p.Pro20Leu) single nucleotide variant Inborn genetic diseases [RCV002357948] Chr1:113904659 [GRCh38]
Chr1:114447281 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1444C>T (p.Pro482Ser) single nucleotide variant Inborn genetic diseases [RCV002774156] Chr1:113912036 [GRCh38]
Chr1:114454658 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.37C>A (p.Leu13Met) single nucleotide variant Hereditary spastic paraplegia 47 [RCV002510692] Chr1:113904681 [GRCh38]
Chr1:114447303 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.694G>A (p.Val232Ile) single nucleotide variant Inborn genetic diseases [RCV002905811] Chr1:113911286 [GRCh38]
Chr1:114453908 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.703A>G (p.Met235Val) single nucleotide variant Inborn genetic diseases [RCV002732974] Chr1:113911295 [GRCh38]
Chr1:114453917 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1448T>C (p.Leu483Pro) single nucleotide variant Inborn genetic diseases [RCV002930609] Chr1:113912040 [GRCh38]
Chr1:114454662 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.1586A>G (p.His529Arg) single nucleotide variant Inborn genetic diseases [RCV002808807] Chr1:113912178 [GRCh38]
Chr1:114454800 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.38T>C (p.Leu13Pro) single nucleotide variant Inborn genetic diseases [RCV002792209] Chr1:113904680 [GRCh38]
Chr1:114447302 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.87C>T (p.Tyr29=) single nucleotide variant Hereditary spastic paraplegia 47 [RCV003070256] Chr1:113904631 [GRCh38]
Chr1:114447253 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.395C>T (p.Ala132Val) single nucleotide variant Inborn genetic diseases [RCV003214848] Chr1:113908048 [GRCh38]
Chr1:114450670 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.61G>C (p.Ala21Pro) single nucleotide variant Inborn genetic diseases [RCV003260928] Chr1:113905647 [GRCh38]
Chr1:114448269 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly) single nucleotide variant Fanconi anemia complementation group C [RCV003221327] Chr1:113907054 [GRCh38]
Chr1:114449676 [GRCh37]
Chr1:1p13.2
pathogenic
NM_022836.4(DCLRE1B):c.473G>A (p.Arg158Gln) single nucleotide variant Inborn genetic diseases [RCV003346021] Chr1:113908126 [GRCh38]
Chr1:114450748 [GRCh37]
Chr1:1p13.2
likely benign
NM_022836.4(DCLRE1B):c.509G>A (p.Arg170Gln) single nucleotide variant Inborn genetic diseases [RCV003349559] Chr1:113908162 [GRCh38]
Chr1:114450784 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_022836.4(DCLRE1B):c.1272G>T (p.Met424Ile) single nucleotide variant Inborn genetic diseases [RCV003374633] Chr1:113911864 [GRCh38]
Chr1:114454486 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1
pathogenic
GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3 copy number gain not provided [RCV003484031] Chr1:114121742..114665485 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.41A>G (p.Lys14Arg) single nucleotide variant Hereditary spastic paraplegia 47 [RCV003641169] Chr1:113904677 [GRCh38]
Chr1:114447299 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs) microsatellite Hereditary spastic paraplegia 47 [RCV003827593] Chr1:113904665..113904666 [GRCh38]
Chr1:114447287..114447288 [GRCh37]
Chr1:1p13.2
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR331hsa-miR-331-3pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:807
Count of miRNA genes:593
Interacting mature miRNAs:670
Transcripts:ENST00000369563, ENST00000466480
Prediction methods: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.


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 129 120 45 35 612 38 361 57 220 77 243 270 9 4 109 3
Low 2307 2748 1634 550 1322 388 3890 1947 3484 336 1215 1342 165 1 1200 2573 3 2
Below cutoff 2 122 47 39 17 39 106 193 29 6 2 1 1 106

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_057565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF306690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF306691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF306692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF306693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI669133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY849379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA414122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR005221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000466480   ⟹   ENSP00000497696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,905,409 - 113,914,072 (+)Ensembl
RefSeq Acc Id: ENST00000648795   ⟹   ENSP00000497557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,905,333 - 113,912,464 (+)Ensembl
RefSeq Acc Id: ENST00000650450   ⟹   ENSP00000498042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,905,326 - 113,914,086 (+)Ensembl
RefSeq Acc Id: ENST00000650596   ⟹   ENSP00000497882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,905,213 - 113,912,381 (+)Ensembl
RefSeq Acc Id: ENST00000697125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,904,619 - 113,908,180 (+)Ensembl
RefSeq Acc Id: ENST00000697126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,907,246 - 113,914,056 (+)Ensembl
RefSeq Acc Id: NM_001319946   ⟹   NP_001306875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,905,326 - 113,914,086 (+)NCBI
CHM1_11114,562,775 - 114,571,568 (+)NCBI
T2T-CHM13v2.01113,916,988 - 113,925,748 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319947   ⟹   NP_001306876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,904,619 - 113,914,086 (+)NCBI
CHM1_11114,562,101 - 114,571,568 (+)NCBI
T2T-CHM13v2.01113,916,281 - 113,925,748 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363690   ⟹   NP_001350619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,905,326 - 113,914,080 (+)NCBI
T2T-CHM13v2.01113,916,988 - 113,925,742 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363691   ⟹   NP_001350620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,905,326 - 113,914,080 (+)NCBI
T2T-CHM13v2.01113,916,988 - 113,925,742 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022836   ⟹   NP_073747
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,905,326 - 113,914,086 (+)NCBI
GRCh371114,447,915 - 114,456,708 (+)ENTREZGENE
Build 361114,249,561 - 114,258,217 (+)NCBI Archive
HuRef1112,306,040 - 112,314,841 (+)ENTREZGENE
CHM1_11114,562,775 - 114,571,568 (+)NCBI
T2T-CHM13v2.01113,916,988 - 113,925,748 (+)NCBI
Sequence:
RefSeq Acc Id: NP_073747   ⟸   NM_022836
- Peptide Label: isoform a
- UniProtKB: Q9H9E5 (UniProtKB/Swiss-Prot),   Q9H816 (UniProtKB/Swiss-Prot),   A0A3B3ITQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306876   ⟸   NM_001319947
- Peptide Label: isoform b
- UniProtKB: Q9H816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306875   ⟸   NM_001319946
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001350619   ⟸   NM_001363690
- Peptide Label: isoform c
RefSeq Acc Id: NP_001350620   ⟸   NM_001363691
- Peptide Label: isoform d
RefSeq Acc Id: ENSP00000497557   ⟸   ENST00000648795
RefSeq Acc Id: ENSP00000497696   ⟸   ENST00000466480
RefSeq Acc Id: ENSP00000498042   ⟸   ENST00000650450
RefSeq Acc Id: ENSP00000497882   ⟸   ENST00000650596
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H816-F1-model_v2 AlphaFold Q9H816 1-532 view protein structure

Promoters
RGD ID:6856694
Promoter ID:EPDNEW_H1512
Type:initiation region
Name:DCLRE1B_2
Description:DNA cross-link repair 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1513  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,905,171 - 113,905,231EPDNEW
RGD ID:6856696
Promoter ID:EPDNEW_H1513
Type:initiation region
Name:DCLRE1B_1
Description:DNA cross-link repair 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1512  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,905,347 - 113,905,407EPDNEW
RGD ID:6785005
Promoter ID:HG_KWN:4215
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000033020,   OTTHUMT00000033021,   UC001EEI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361114,249,249 - 114,249,749 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17641 AgrOrtholog
COSMIC DCLRE1B COSMIC
Ensembl Genes ENSG00000118655 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000466480.2 UniProtKB/TrEMBL
  ENST00000648795.1 UniProtKB/TrEMBL
  ENST00000650450 ENTREZGENE
  ENST00000650450.2 UniProtKB/Swiss-Prot
  ENST00000650596.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.12650 UniProtKB/Swiss-Prot
  3.60.15.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118655 GTEx
HGNC ID HGNC:17641 ENTREZGENE
Human Proteome Map DCLRE1B Human Proteome Map
InterPro DRMBL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RibonucZ/Hydroxyglut_hydro UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64858 UniProtKB/Swiss-Prot
NCBI Gene 64858 ENTREZGENE
OMIM 609683 OMIM
PANTHER 5' EXONUCLEASE APOLLO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA CROSS-LINK REPAIR PROTEIN PSO2/SNM1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DRMBL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB DCLRE1B RGD, PharmGKB
Superfamily-SCOP SSF56281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IT16_HUMAN UniProtKB/TrEMBL
  A0A3B3ITQ0 ENTREZGENE, UniProtKB/TrEMBL
  DCR1B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9H9E5 ENTREZGENE
UniProt Secondary Q9H9E5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 DCLRE1B  DNA cross-link repair 1B  DCLRE1B  DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)  Symbol and/or name change 5135510 APPROVED