BOD1L1 (biorientation of chromosomes in cell division 1 like 1) - Rat Genome Database

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Gene: BOD1L1 (biorientation of chromosomes in cell division 1 like 1) Homo sapiens
Analyze
Symbol: BOD1L1
Name: biorientation of chromosomes in cell division 1 like 1
RGD ID: 1344806
HGNC Page HGNC:31792
Description: Involved in DNA damage response and replication fork processing. Located in Set1C/COMPASS complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: biorientation of chromosomes in cell division 1-like; biorientation of chromosomes in cell division 1-like 1; biorientation of chromosomes in cell division protein 1-like; biorientation of chromosomes in cell division protein 1-like 1; BOD1L; FAM44A; family with sequence similarity 44, member A; FLJ33215; KIAA1327
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38413,568,738 - 13,627,725 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl413,568,738 - 13,627,725 (-)EnsemblGRCh38hg38GRCh38
GRCh37413,570,362 - 13,629,349 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36413,179,464 - 13,238,426 (-)NCBINCBI36Build 36hg18NCBI36
Build 34413,282,325 - 13,305,597NCBI
Celera414,036,574 - 14,095,541 (-)NCBICelera
Cytogenetic Map4p15.33NCBI
HuRef412,908,016 - 12,967,039 (-)NCBIHuRef
CHM1_1413,568,964 - 13,627,876 (-)NCBICHM1_1
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromosome  (IEA)
nucleoplasm  (IDA,TAS)
Set1C/COMPASS complex  (IBA,IPI)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10718198   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17081983   PMID:18654987   PMID:20379614   PMID:21873635   PMID:23508102   PMID:23667531   PMID:24981860   PMID:26166705  
PMID:26186194   PMID:26496610   PMID:26626481   PMID:26886794   PMID:26889944   PMID:27634302   PMID:27705803   PMID:28514442   PMID:28611215   PMID:29507755   PMID:29509190   PMID:29656893  
PMID:29676528   PMID:30021884   PMID:30033366   PMID:30585729   PMID:30890647   PMID:30948266   PMID:31010829   PMID:31076518   PMID:31586073   PMID:32129710   PMID:32416067   PMID:32786267  
PMID:33545068   PMID:33596420   PMID:33916271   PMID:33961781   PMID:34048709   PMID:34079125   PMID:34672954   PMID:35384245   PMID:35439318   PMID:35831314   PMID:35944360   PMID:35987950  
PMID:36089195   PMID:36273042   PMID:36373674   PMID:36424410   PMID:36634849   PMID:36779763   PMID:36931259   PMID:37689310   PMID:37827155   PMID:37974198   PMID:38280479  


Genomics

Comparative Map Data
BOD1L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38413,568,738 - 13,627,725 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl413,568,738 - 13,627,725 (-)EnsemblGRCh38hg38GRCh38
GRCh37413,570,362 - 13,629,349 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36413,179,464 - 13,238,426 (-)NCBINCBI36Build 36hg18NCBI36
Build 34413,282,325 - 13,305,597NCBI
Celera414,036,574 - 14,095,541 (-)NCBICelera
Cytogenetic Map4p15.33NCBI
HuRef412,908,016 - 12,967,039 (-)NCBIHuRef
CHM1_1413,568,964 - 13,627,876 (-)NCBICHM1_1
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBIT2T-CHM13v2.0
Bod1l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39541,944,881 - 42,001,695 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl541,944,881 - 42,001,658 (-)EnsemblGRCm39 Ensembl
GRCm38541,787,538 - 41,844,355 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl541,787,538 - 41,844,315 (-)EnsemblGRCm38mm10GRCm38
MGSCv37542,178,777 - 42,235,554 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36542,075,680 - 42,132,563 (-)NCBIMGSCv36mm8
Celera539,246,969 - 39,303,754 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map522.58NCBI
Bod1l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81473,320,880 - 73,375,662 (+)NCBIGRCr8
mRatBN7.21469,108,483 - 69,163,255 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1469,108,491 - 69,162,490 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01473,738,137 - 73,792,935 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1473,738,137 - 73,791,656 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01473,755,135 - 73,805,958 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1468,041,194 - 68,096,023 (+)NCBICelera
Cytogenetic Map14q21NCBI
Bod1l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495548010,142,739 - 10,189,322 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495548010,143,053 - 10,189,194 (+)NCBIChiLan1.0ChiLan1.0
BOD1L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2313,825,244 - 13,884,431 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1414,023,863 - 14,082,864 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v047,986,005 - 8,045,002 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1413,286,552 - 13,345,458 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl413,294,884 - 13,345,519 (-)Ensemblpanpan1.1panPan2
BOD1L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1366,465,813 - 66,520,414 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl366,474,570 - 66,519,777 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha368,989,129 - 69,043,744 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0367,069,729 - 67,124,447 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl367,069,124 - 67,124,536 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1366,447,171 - 66,502,047 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0366,640,502 - 66,695,141 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0367,009,986 - 67,064,994 (+)NCBIUU_Cfam_GSD_1.0
Bod1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528560,225,913 - 60,274,041 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647713,930,161 - 13,974,589 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647713,927,605 - 13,975,722 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BOD1L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl89,197,043 - 9,254,485 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.189,197,064 - 9,254,422 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.288,734,590 - 8,791,839 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BOD1L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12736,560,501 - 36,619,215 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2736,560,749 - 36,620,191 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604783,308,231 - 83,367,138 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bod1l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475518,000,318 - 18,057,449 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475518,000,192 - 18,055,372 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BOD1L1
149 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
NM_148894.2(BOD1L1):c.8210-374C>T single nucleotide variant Lung cancer [RCV000094115] Chr4:13589166 [GRCh38]
Chr4:13590790 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p15.33(chr4:11610765-13822432)x3 copy number gain See cases [RCV000136568] Chr4:11610765..13822432 [GRCh38]
Chr4:11612389..13824056 [GRCh37]
Chr4:11221487..13433154 [NCBI36]
Chr4:4p15.33		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p15.33(chr4:12959891-14417711)x3 copy number gain See cases [RCV000138199] Chr4:12959891..14417711 [GRCh38]
Chr4:12961515..14419335 [GRCh37]
Chr4:12570613..14028433 [NCBI36]
Chr4:4p15.33		 uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_148894.3(BOD1L1):c.1344_1345del (p.Gln448_Asn449insTer) deletion not provided [RCV000521294] Chr4:13611080..13611081 [GRCh38]
Chr4:13612704..13612705 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_148894.3(BOD1L1):c.7636G>A (p.Val2546Met) single nucleotide variant Inborn genetic diseases [RCV003248631] Chr4:13599264 [GRCh38]
Chr4:13600888 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6832G>A (p.Asp2278Asn) single nucleotide variant Inborn genetic diseases [RCV003284752] Chr4:13600068 [GRCh38]
Chr4:13601692 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2809A>G (p.Thr937Ala) single nucleotide variant Inborn genetic diseases [RCV003239927] Chr4:13604091 [GRCh38]
Chr4:13605715 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.2461C>T (p.Arg821Cys) single nucleotide variant Inborn genetic diseases [RCV003242526] Chr4:13604439 [GRCh38]
Chr4:13606063 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2357A>G (p.Lys786Arg) single nucleotide variant Inborn genetic diseases [RCV003249513] Chr4:13604543 [GRCh38]
Chr4:13606167 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5891G>C (p.Gly1964Ala) single nucleotide variant Inborn genetic diseases [RCV003253445] Chr4:13601009 [GRCh38]
Chr4:13602633 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p15.33(chr4:11589403-13990229)x3 copy number gain not provided [RCV000682386] Chr4:11589403..13990229 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh37/hg19 4p15.33(chr4:13220339-13634742)x3 copy number gain not provided [RCV000682387] Chr4:13220339..13634742 [GRCh37]
Chr4:4p15.33		 likely benign
NC_000004.12:g.8398067_17505522inv inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1		 pathogenic
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32		 likely pathogenic
NM_148894.3(BOD1L1):c.1297A>T (p.Met433Leu) single nucleotide variant Inborn genetic diseases [RCV003266962] Chr4:13613539 [GRCh38]
Chr4:13615163 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6691G>C (p.Val2231Leu) single nucleotide variant Inborn genetic diseases [RCV003290152] Chr4:13600209 [GRCh38]
Chr4:13601833 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 copy number loss not provided [RCV000998337] Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2		 uncertain significance
NM_148894.3(BOD1L1):c.5339C>T (p.Ser1780Phe) single nucleotide variant Inborn genetic diseases [RCV003246598] Chr4:13601561 [GRCh38]
Chr4:13603185 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6763A>G (p.Ile2255Val) single nucleotide variant Inborn genetic diseases [RCV003272808] Chr4:13600137 [GRCh38]
Chr4:13601761 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.5149A>C (p.Met1717Leu) single nucleotide variant Inborn genetic diseases [RCV003272858] Chr4:13601751 [GRCh38]
Chr4:13603375 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8515A>G (p.Lys2839Glu) single nucleotide variant Inborn genetic diseases [RCV003239958] Chr4:13582655 [GRCh38]
Chr4:13584279 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.167T>C (p.Met56Thr) single nucleotide variant Inborn genetic diseases [RCV003250902] Chr4:13627421 [GRCh38]
Chr4:13629045 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5885T>G (p.Val1962Gly) single nucleotide variant Inborn genetic diseases [RCV003292060] Chr4:13601015 [GRCh38]
Chr4:13602639 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh37/hg19 4p16.1-15.33(chr4:10313041-14158188)x3 copy number gain not provided [RCV001005525] Chr4:10313041..14158188 [GRCh37]
Chr4:4p16.1-15.33		 uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3 copy number gain not provided [RCV001834299] Chr4:9577432..16223471 [GRCh37]
Chr4:4p16.1-15.32		 likely pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_148894.3(BOD1L1):c.1088A>T (p.Gln363Leu) single nucleotide variant Inborn genetic diseases [RCV003279522] Chr4:13614282 [GRCh38]
Chr4:13615906 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_148894.3(BOD1L1):c.2575C>G (p.Gln859Glu) single nucleotide variant Inborn genetic diseases [RCV003280186] Chr4:13604325 [GRCh38]
Chr4:13605949 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.842G>A (p.Ser281Asn) single nucleotide variant Inborn genetic diseases [RCV003282788] Chr4:13614528 [GRCh38]
Chr4:13616152 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2968C>T (p.His990Tyr) single nucleotide variant Inborn genetic diseases [RCV003307144] Chr4:13603932 [GRCh38]
Chr4:13605556 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.124G>A (p.Gly42Ser) single nucleotide variant Inborn genetic diseases [RCV002902806] Chr4:13627464 [GRCh38]
Chr4:13629088 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.137C>T (p.Ala46Val) single nucleotide variant Inborn genetic diseases [RCV002772932] Chr4:13627451 [GRCh38]
Chr4:13629075 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8519A>G (p.Asp2840Gly) single nucleotide variant Inborn genetic diseases [RCV002682245] Chr4:13582310 [GRCh38]
Chr4:13583934 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6457G>A (p.Glu2153Lys) single nucleotide variant Inborn genetic diseases [RCV002968841] Chr4:13600443 [GRCh38]
Chr4:13602067 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5740C>T (p.His1914Tyr) single nucleotide variant Inborn genetic diseases [RCV002778686] Chr4:13601160 [GRCh38]
Chr4:13602784 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4801G>A (p.Ala1601Thr) single nucleotide variant Inborn genetic diseases [RCV002749965] Chr4:13602099 [GRCh38]
Chr4:13603723 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5833G>C (p.Asp1945His) single nucleotide variant Inborn genetic diseases [RCV002779858] Chr4:13601067 [GRCh38]
Chr4:13602691 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3352G>C (p.Glu1118Gln) single nucleotide variant Inborn genetic diseases [RCV002733187] Chr4:13603548 [GRCh38]
Chr4:13605172 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1277A>G (p.Glu426Gly) single nucleotide variant Inborn genetic diseases [RCV002970045] Chr4:13613559 [GRCh38]
Chr4:13615183 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3210G>T (p.Leu1070Phe) single nucleotide variant Inborn genetic diseases [RCV002752251] Chr4:13603690 [GRCh38]
Chr4:13605314 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5321G>A (p.Ser1774Asn) single nucleotide variant Inborn genetic diseases [RCV002794423] Chr4:13601579 [GRCh38]
Chr4:13603203 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4859T>C (p.Val1620Ala) single nucleotide variant Inborn genetic diseases [RCV002794323] Chr4:13602041 [GRCh38]
Chr4:13603665 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8807G>A (p.Gly2936Asp) single nucleotide variant Inborn genetic diseases [RCV002776945] Chr4:13577480 [GRCh38]
Chr4:13579104 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4034A>G (p.Glu1345Gly) single nucleotide variant Inborn genetic diseases [RCV002686889] Chr4:13602866 [GRCh38]
Chr4:13604490 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7445G>C (p.Gly2482Ala) single nucleotide variant Inborn genetic diseases [RCV002969898] Chr4:13599455 [GRCh38]
Chr4:13601079 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4370T>C (p.Leu1457Pro) single nucleotide variant Inborn genetic diseases [RCV002905554] Chr4:13602530 [GRCh38]
Chr4:13604154 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.94C>T (p.Pro32Ser) single nucleotide variant Inborn genetic diseases [RCV002860755] Chr4:13627494 [GRCh38]
Chr4:13629118 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7858G>A (p.Glu2620Lys) single nucleotide variant Inborn genetic diseases [RCV002778165] Chr4:13599042 [GRCh38]
Chr4:13600666 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7018A>G (p.Ile2340Val) single nucleotide variant Inborn genetic diseases [RCV002859299] Chr4:13599882 [GRCh38]
Chr4:13601506 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8542A>G (p.Thr2848Ala) single nucleotide variant Inborn genetic diseases [RCV002689158] Chr4:13582287 [GRCh38]
Chr4:13583911 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.4846G>A (p.Gly1616Arg) single nucleotide variant Inborn genetic diseases [RCV002865036] Chr4:13602054 [GRCh38]
Chr4:13603678 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3619A>G (p.Met1207Val) single nucleotide variant Inborn genetic diseases [RCV002732568] Chr4:13603281 [GRCh38]
Chr4:13604905 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.3935G>A (p.Gly1312Asp) single nucleotide variant Inborn genetic diseases [RCV002692730] Chr4:13602965 [GRCh38]
Chr4:13604589 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.863A>G (p.Glu288Gly) single nucleotide variant Inborn genetic diseases [RCV002823251] Chr4:13614507 [GRCh38]
Chr4:13616131 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3625A>G (p.Ile1209Val) single nucleotide variant Inborn genetic diseases [RCV002762430] Chr4:13603275 [GRCh38]
Chr4:13604899 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1945A>G (p.Lys649Glu) single nucleotide variant Inborn genetic diseases [RCV002784867] Chr4:13604955 [GRCh38]
Chr4:13606579 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2971A>G (p.Arg991Gly) single nucleotide variant Inborn genetic diseases [RCV002910916] Chr4:13603929 [GRCh38]
Chr4:13605553 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.685A>G (p.Thr229Ala) single nucleotide variant Inborn genetic diseases [RCV002758074] Chr4:13614685 [GRCh38]
Chr4:13616309 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5027G>A (p.Gly1676Glu) single nucleotide variant Inborn genetic diseases [RCV002703949] Chr4:13601873 [GRCh38]
Chr4:13603497 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6932A>G (p.Gln2311Arg) single nucleotide variant Inborn genetic diseases [RCV002978387] Chr4:13599968 [GRCh38]
Chr4:13601592 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7891T>G (p.Ser2631Ala) single nucleotide variant Inborn genetic diseases [RCV002925337] Chr4:13599009 [GRCh38]
Chr4:13600633 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.592G>A (p.Ala198Thr) single nucleotide variant Inborn genetic diseases [RCV002799386] Chr4:13614778 [GRCh38]
Chr4:13616402 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3214G>A (p.Glu1072Lys) single nucleotide variant Inborn genetic diseases [RCV002886801] Chr4:13603686 [GRCh38]
Chr4:13605310 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.428T>A (p.Ile143Asn) single nucleotide variant Inborn genetic diseases [RCV002822206] Chr4:13615443 [GRCh38]
Chr4:13617067 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1265A>G (p.Asp422Gly) single nucleotide variant Inborn genetic diseases [RCV002950852] Chr4:13613571 [GRCh38]
Chr4:13615195 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5452A>T (p.Ile1818Leu) single nucleotide variant Inborn genetic diseases [RCV002912035] Chr4:13601448 [GRCh38]
Chr4:13603072 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.8524T>C (p.Tyr2842His) single nucleotide variant Inborn genetic diseases [RCV002911683] Chr4:13582305 [GRCh38]
Chr4:13583929 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2797A>G (p.Thr933Ala) single nucleotide variant Inborn genetic diseases [RCV002978473] Chr4:13604103 [GRCh38]
Chr4:13605727 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7882A>C (p.Thr2628Pro) single nucleotide variant Inborn genetic diseases [RCV002737006] Chr4:13599018 [GRCh38]
Chr4:13600642 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.781A>C (p.Lys261Gln) single nucleotide variant Inborn genetic diseases [RCV002767255] Chr4:13614589 [GRCh38]
Chr4:13616213 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7996C>G (p.Leu2666Val) single nucleotide variant Inborn genetic diseases [RCV002825907] Chr4:13597127 [GRCh38]
Chr4:13598751 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7676C>T (p.Ser2559Phe) single nucleotide variant Inborn genetic diseases [RCV002708812] Chr4:13599224 [GRCh38]
Chr4:13600848 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4427G>C (p.Arg1476Thr) single nucleotide variant Inborn genetic diseases [RCV002699042] Chr4:13602473 [GRCh38]
Chr4:13604097 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6005G>C (p.Gly2002Ala) single nucleotide variant Inborn genetic diseases [RCV002665805] Chr4:13600895 [GRCh38]
Chr4:13602519 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7594G>A (p.Gly2532Ser) single nucleotide variant Inborn genetic diseases [RCV002981799] Chr4:13599306 [GRCh38]
Chr4:13600930 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6017G>T (p.Gly2006Val) single nucleotide variant Inborn genetic diseases [RCV002874754] Chr4:13600883 [GRCh38]
Chr4:13602507 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.53C>T (p.Pro18Leu) single nucleotide variant Inborn genetic diseases [RCV002666442] Chr4:13627535 [GRCh38]
Chr4:13629159 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.743A>T (p.Asp248Val) single nucleotide variant Inborn genetic diseases [RCV002768008] Chr4:13614627 [GRCh38]
Chr4:13616251 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8414C>T (p.Thr2805Met) single nucleotide variant Inborn genetic diseases [RCV002709528] Chr4:13586415 [GRCh38]
Chr4:13588039 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6602C>T (p.Ala2201Val) single nucleotide variant Inborn genetic diseases [RCV002915718] Chr4:13600298 [GRCh38]
Chr4:13601922 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.2866C>T (p.Arg956Cys) single nucleotide variant Inborn genetic diseases [RCV002665713] Chr4:13604034 [GRCh38]
Chr4:13605658 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5689T>A (p.Leu1897Met) single nucleotide variant Inborn genetic diseases [RCV002985987] Chr4:13601211 [GRCh38]
Chr4:13602835 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.538G>A (p.Asp180Asn) single nucleotide variant Inborn genetic diseases [RCV002709309] Chr4:13615333 [GRCh38]
Chr4:13616957 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3955C>T (p.Pro1319Ser) single nucleotide variant Inborn genetic diseases [RCV002764314] Chr4:13602945 [GRCh38]
Chr4:13604569 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8761A>G (p.Lys2921Glu) single nucleotide variant Inborn genetic diseases [RCV002916871] Chr4:13577620 [GRCh38]
Chr4:13579244 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5091A>G (p.Ile1697Met) single nucleotide variant Inborn genetic diseases [RCV002874472] Chr4:13601809 [GRCh38]
Chr4:13603433 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3422G>A (p.Arg1141His) single nucleotide variant Inborn genetic diseases [RCV002891797] Chr4:13603478 [GRCh38]
Chr4:13605102 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7093G>C (p.Ala2365Pro) single nucleotide variant Inborn genetic diseases [RCV002764094] Chr4:13599807 [GRCh38]
Chr4:13601431 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8294A>G (p.Glu2765Gly) single nucleotide variant Inborn genetic diseases [RCV002891266] Chr4:13587758 [GRCh38]
Chr4:13589382 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.9101G>A (p.Arg3034Gln) single nucleotide variant Inborn genetic diseases [RCV002873000] Chr4:13570066 [GRCh38]
Chr4:13571690 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4095C>A (p.His1365Gln) single nucleotide variant Inborn genetic diseases [RCV002742509] Chr4:13602805 [GRCh38]
Chr4:13604429 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4257G>C (p.Glu1419Asp) single nucleotide variant Inborn genetic diseases [RCV002697934] Chr4:13602643 [GRCh38]
Chr4:13604267 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.514A>G (p.Thr172Ala) single nucleotide variant Inborn genetic diseases [RCV002805214] Chr4:13615357 [GRCh38]
Chr4:13616981 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8494A>T (p.Thr2832Ser) single nucleotide variant Inborn genetic diseases [RCV002666364] Chr4:13582676 [GRCh38]
Chr4:13584300 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6739A>G (p.Met2247Val) single nucleotide variant Inborn genetic diseases [RCV002813534] Chr4:13600161 [GRCh38]
Chr4:13601785 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5653A>C (p.Thr1885Pro) single nucleotide variant Inborn genetic diseases [RCV002673558] Chr4:13601247 [GRCh38]
Chr4:13602871 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2932T>G (p.Ser978Ala) single nucleotide variant Inborn genetic diseases [RCV002941798] Chr4:13603968 [GRCh38]
Chr4:13605592 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.5291A>G (p.Asp1764Gly) single nucleotide variant Inborn genetic diseases [RCV003010741] Chr4:13601609 [GRCh38]
Chr4:13603233 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4606G>A (p.Gly1536Arg) single nucleotide variant Inborn genetic diseases [RCV002674431] Chr4:13602294 [GRCh38]
Chr4:13603918 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4499G>A (p.Gly1500Glu) single nucleotide variant Inborn genetic diseases [RCV002672986] Chr4:13602401 [GRCh38]
Chr4:13604025 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8554C>G (p.Pro2852Ala) single nucleotide variant Inborn genetic diseases [RCV002809219] Chr4:13582275 [GRCh38]
Chr4:13583899 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3149G>A (p.Ser1050Asn) single nucleotide variant Inborn genetic diseases [RCV002668918] Chr4:13603751 [GRCh38]
Chr4:13605375 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4114G>C (p.Ala1372Pro) single nucleotide variant Inborn genetic diseases [RCV002768799] Chr4:13602786 [GRCh38]
Chr4:13604410 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8765A>C (p.Glu2922Ala) single nucleotide variant Inborn genetic diseases [RCV002934753] Chr4:13577616 [GRCh38]
Chr4:13579240 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6077C>G (p.Pro2026Arg) single nucleotide variant Inborn genetic diseases [RCV002856027] Chr4:13600823 [GRCh38]
Chr4:13602447 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2917G>A (p.Val973Ile) single nucleotide variant Inborn genetic diseases [RCV002675378] Chr4:13603983 [GRCh38]
Chr4:13605607 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6313A>G (p.Met2105Val) single nucleotide variant Inborn genetic diseases [RCV002989523] Chr4:13600587 [GRCh38]
Chr4:13602211 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.752G>A (p.Arg251Lys) single nucleotide variant Inborn genetic diseases [RCV002831785] Chr4:13614618 [GRCh38]
Chr4:13616242 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1524G>T (p.Arg508Ser) single nucleotide variant Inborn genetic diseases [RCV002669193] Chr4:13609374 [GRCh38]
Chr4:13610998 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.443G>T (p.Arg148Ile) single nucleotide variant Inborn genetic diseases [RCV002964197] Chr4:13615428 [GRCh38]
Chr4:13617052 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.104G>T (p.Gly35Val) single nucleotide variant Inborn genetic diseases [RCV002675065] Chr4:13627484 [GRCh38]
Chr4:13629108 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8465C>A (p.Pro2822His) single nucleotide variant Inborn genetic diseases [RCV002836192] Chr4:13582705 [GRCh38]
Chr4:13584329 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7774G>T (p.Val2592Leu) single nucleotide variant Inborn genetic diseases [RCV002677150] Chr4:13599126 [GRCh38]
Chr4:13600750 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1807A>T (p.Thr603Ser) single nucleotide variant Inborn genetic diseases [RCV002678296] Chr4:13607125 [GRCh38]
Chr4:13608749 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5809A>G (p.Thr1937Ala) single nucleotide variant Inborn genetic diseases [RCV002723968] Chr4:13601091 [GRCh38]
Chr4:13602715 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.2489G>A (p.Arg830His) single nucleotide variant Inborn genetic diseases [RCV002678985] Chr4:13604411 [GRCh38]
Chr4:13606035 [GRCh37]
Chr4:4p15.33		 likely benign
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
NM_148894.3(BOD1L1):c.3866T>C (p.Val1289Ala) single nucleotide variant Inborn genetic diseases [RCV003254914] Chr4:13603034 [GRCh38]
Chr4:13604658 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.2693G>A (p.Arg898Gln) single nucleotide variant Inborn genetic diseases [RCV003188454] Chr4:13604207 [GRCh38]
Chr4:13605831 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.5248C>T (p.Arg1750Trp) single nucleotide variant Inborn genetic diseases [RCV003207335] Chr4:13601652 [GRCh38]
Chr4:13603276 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1895G>A (p.Arg632Gln) single nucleotide variant Inborn genetic diseases [RCV003207543] Chr4:13605005 [GRCh38]
Chr4:13606629 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3553C>T (p.Arg1185Cys) single nucleotide variant Inborn genetic diseases [RCV003190912] Chr4:13603347 [GRCh38]
Chr4:13604971 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8492C>T (p.Thr2831Ile) single nucleotide variant Inborn genetic diseases [RCV003205654] Chr4:13582678 [GRCh38]
Chr4:13584302 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8183T>C (p.Ile2728Thr) single nucleotide variant Inborn genetic diseases [RCV003181019] Chr4:13590412 [GRCh38]
Chr4:13592036 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1694T>C (p.Val565Ala) single nucleotide variant Inborn genetic diseases [RCV003200249] Chr4:13608578 [GRCh38]
Chr4:13610202 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4355C>A (p.Ala1452Asp) single nucleotide variant Inborn genetic diseases [RCV003180394] Chr4:13602545 [GRCh38]
Chr4:13604169 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4517C>T (p.Ala1506Val) single nucleotide variant Inborn genetic diseases [RCV003202596] Chr4:13602383 [GRCh38]
Chr4:13604007 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8834G>A (p.Arg2945His) single nucleotide variant Inborn genetic diseases [RCV003184105] Chr4:13577453 [GRCh38]
Chr4:13579077 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7774G>A (p.Val2592Ile) single nucleotide variant Inborn genetic diseases [RCV003190033] Chr4:13599126 [GRCh38]
Chr4:13600750 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4109A>C (p.His1370Pro) single nucleotide variant Inborn genetic diseases [RCV003217663] Chr4:13602791 [GRCh38]
Chr4:13604415 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6582G>A (p.Met2194Ile) single nucleotide variant Inborn genetic diseases [RCV003194937] Chr4:13600318 [GRCh38]
Chr4:13601942 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8327A>T (p.His2776Leu) single nucleotide variant Inborn genetic diseases [RCV003197488] Chr4:13587725 [GRCh38]
Chr4:13589349 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3562G>A (p.Gly1188Arg) single nucleotide variant Inborn genetic diseases [RCV003260888] Chr4:13603338 [GRCh38]
Chr4:13604962 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.493A>C (p.Lys165Gln) single nucleotide variant Inborn genetic diseases [RCV003206227] Chr4:13615378 [GRCh38]
Chr4:13617002 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1888C>A (p.Pro630Thr) single nucleotide variant Inborn genetic diseases [RCV003174602] Chr4:13605012 [GRCh38]
Chr4:13606636 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.3550G>C (p.Gly1184Arg) single nucleotide variant Inborn genetic diseases [RCV003201168] Chr4:13603350 [GRCh38]
Chr4:13604974 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6197A>C (p.Asn2066Thr) single nucleotide variant Inborn genetic diseases [RCV003206670] Chr4:13600703 [GRCh38]
Chr4:13602327 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2331A>T (p.Gln777His) single nucleotide variant Inborn genetic diseases [RCV003178003] Chr4:13604569 [GRCh38]
Chr4:13606193 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7570C>T (p.Arg2524Cys) single nucleotide variant Inborn genetic diseases [RCV003208293] Chr4:13599330 [GRCh38]
Chr4:13600954 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1052A>G (p.Lys351Arg) single nucleotide variant Inborn genetic diseases [RCV003305289] Chr4:13614318 [GRCh38]
Chr4:13615942 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.8943G>T (p.Lys2981Asn) single nucleotide variant Inborn genetic diseases [RCV003286224] Chr4:13576933 [GRCh38]
Chr4:13578557 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.9071G>A (p.Arg3024His) single nucleotide variant Inborn genetic diseases [RCV003286348] Chr4:13570096 [GRCh38]
Chr4:13571720 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
NM_148894.3(BOD1L1):c.6985A>G (p.Ile2329Val) single nucleotide variant Inborn genetic diseases [RCV003356536] Chr4:13599915 [GRCh38]
Chr4:13601539 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.2947A>G (p.Ser983Gly) single nucleotide variant Inborn genetic diseases [RCV003348400] Chr4:13603953 [GRCh38]
Chr4:13605577 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.5257C>T (p.Arg1753Cys) single nucleotide variant Inborn genetic diseases [RCV003351261] Chr4:13601643 [GRCh38]
Chr4:13603267 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7837T>G (p.Trp2613Gly) single nucleotide variant Inborn genetic diseases [RCV003378133] Chr4:13599063 [GRCh38]
Chr4:13600687 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4619C>A (p.Thr1540Asn) single nucleotide variant Inborn genetic diseases [RCV003347667] Chr4:13602281 [GRCh38]
Chr4:13603905 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.4293G>T (p.Glu1431Asp) single nucleotide variant Inborn genetic diseases [RCV003362254] Chr4:13602607 [GRCh38]
Chr4:13604231 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.6125A>G (p.Glu2042Gly) single nucleotide variant Inborn genetic diseases [RCV003364915] Chr4:13600775 [GRCh38]
Chr4:13602399 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.7354A>G (p.Ser2452Gly) single nucleotide variant Inborn genetic diseases [RCV003365252] Chr4:13599546 [GRCh38]
Chr4:13601170 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8909G>T (p.Arg2970Leu) single nucleotide variant Inborn genetic diseases [RCV003364118] Chr4:13576967 [GRCh38]
Chr4:13578591 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1 copy number loss not provided [RCV003485415] Chr4:12238766..23083496 [GRCh37]
Chr4:4p15.33-15.2		 likely pathogenic
GRCh37/hg19 4p15.33(chr4:13402895-13623842)x3 copy number gain not provided [RCV003484171] Chr4:13402895..13623842 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.8246T>C (p.Ile2749Thr) single nucleotide variant not provided [RCV003434976] Chr4:13588756 [GRCh38]
Chr4:13590380 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.6697G>A (p.Gly2233Ser) single nucleotide variant not provided [RCV003439268] Chr4:13600203 [GRCh38]
Chr4:13601827 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.5324A>C (p.Gln1775Pro) single nucleotide variant not provided [RCV003439269] Chr4:13601576 [GRCh38]
Chr4:13603200 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.6295C>G (p.Leu2099Val) single nucleotide variant not provided [RCV003434978] Chr4:13600605 [GRCh38]
Chr4:13602229 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.3960G>A (p.Ala1320=) single nucleotide variant not provided [RCV003434979] Chr4:13602940 [GRCh38]
Chr4:13604564 [GRCh37]
Chr4:4p15.33		 likely benign
NM_148894.3(BOD1L1):c.7593C>T (p.Thr2531=) single nucleotide variant not provided [RCV003434977] Chr4:13599307 [GRCh38]
Chr4:13600931 [GRCh37]
Chr4:4p15.33		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_148894.3(BOD1L1):c.6296T>G (p.Leu2099Arg) single nucleotide variant Inborn genetic diseases [RCV003360326] Chr4:13600604 [GRCh38]
Chr4:13602228 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_148894.3(BOD1L1):c.1048A>G (p.Lys350Glu) single nucleotide variant Inborn genetic diseases [RCV003356557] Chr4:13614322 [GRCh38]
Chr4:13615946 [GRCh37]
Chr4:4p15.33		 uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_148894.3(BOD1L1):c.7213G>A (p.Glu2405Lys) single nucleotide variant Inborn genetic diseases [RCV003358479] Chr4:13599687 [GRCh38]
Chr4:13601311 [GRCh37]
Chr4:4p15.33		 uncertain significance
NM_148894.3(BOD1L1):c.1844C>T (p.Ser615Leu) single nucleotide variant Inborn genetic diseases [RCV003381516] Chr4:13605056 [GRCh38]
Chr4:13606680 [GRCh37]
Chr4:4p15.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2488
Count of miRNA genes:1036
Interacting mature miRNAs:1260
Transcripts:ENST00000040738, ENST00000482713, ENST00000505343, ENST00000507943, ENST00000509897, ENST00000511119
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.

Markers in Region
D4S2311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,574,849 - 13,575,228UniSTSGRCh37
Celera414,041,057 - 14,041,436UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map4p16.1UniSTS
HuRef412,912,499 - 12,912,894UniSTS
Marshfield Genetic Map427.52UniSTS
Marshfield Genetic Map427.52RGD
SHGC-36204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,570,998 - 13,571,104UniSTSGRCh37
Build 36413,180,096 - 13,180,202RGDNCBI36
Celera414,037,206 - 14,037,312RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,908,648 - 12,908,754UniSTS
Stanford-G3 RH Map4917.0UniSTS
NCBI RH Map4121.2UniSTS
GeneMap99-G3 RH Map4901.0UniSTS
D4S3194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,601,992 - 13,602,284UniSTSGRCh37
Build 36413,211,090 - 13,211,382RGDNCBI36
Celera414,068,205 - 14,068,497RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,939,702 - 12,939,994UniSTS
TNG Radiation Hybrid Map48889.0UniSTS
Stanford-G3 RH Map4927.0UniSTS
Whitehead-RH Map480.7UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4122.1UniSTS
SHGC-82934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,607,058 - 13,607,167UniSTSGRCh37
Build 36413,216,156 - 13,216,265RGDNCBI36
Celera414,073,271 - 14,073,380RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,944,768 - 12,944,877UniSTS
TNG Radiation Hybrid Map48889.0UniSTS
D4S2702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,605,011 - 13,605,115UniSTSGRCh37
Build 36413,214,109 - 13,214,213RGDNCBI36
Celera414,071,224 - 14,071,328RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,942,721 - 12,942,825UniSTS
D4S1364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,585,072 - 13,585,221UniSTSGRCh37
Build 36413,194,170 - 13,194,319RGDNCBI36
Celera414,051,280 - 14,051,429RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,922,738 - 12,922,887UniSTS
TNG Radiation Hybrid Map48882.0UniSTS
D4S2669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,579,266 - 13,579,444UniSTSGRCh37
Build 36413,188,364 - 13,188,542RGDNCBI36
Celera414,045,474 - 14,045,652RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,916,932 - 12,917,110UniSTS
Stanford-G3 RH Map4922.0UniSTS
Whitehead-RH Map482.1UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-51764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,579,301 - 13,579,444UniSTSGRCh37
Build 36413,188,399 - 13,188,542RGDNCBI36
Celera414,045,509 - 14,045,652RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,916,967 - 12,917,110UniSTS
TNG Radiation Hybrid Map48863.0UniSTS
D4S259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,604,922 - 13,605,109UniSTSGRCh37
Build 36413,214,020 - 13,214,207RGDNCBI36
Celera414,071,135 - 14,071,322RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,942,632 - 12,942,819UniSTS
RH16627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,570,427 - 13,570,646UniSTSGRCh37
Build 36413,179,525 - 13,179,744RGDNCBI36
Celera414,036,635 - 14,036,854RGD
Cytogenetic Map4p16.1UniSTS
HuRef412,908,077 - 12,908,296UniSTS
GeneMap99-GB4 RH Map474.58UniSTS
NCBI RH Map4133.9UniSTS


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 1454 1389 733 122 1272 46 3075 710 1350 178 1167 1321 89 1 902 1767 6 2
Low 985 1598 991 500 677 417 1281 1485 2384 241 293 292 86 302 1021
Below cutoff 4 2 2 2 2 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_148894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047450037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF528529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC087835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000040738   ⟹   ENSP00000040738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl413,568,738 - 13,627,725 (-)Ensembl
RefSeq Acc Id: ENST00000482713   ⟹   ENSP00000420541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl413,613,506 - 13,627,701 (-)Ensembl
RefSeq Acc Id: ENST00000505343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl413,569,786 - 13,578,201 (-)Ensembl
RefSeq Acc Id: ENST00000507943   ⟹   ENSP00000425492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl413,569,506 - 13,627,725 (-)Ensembl
RefSeq Acc Id: ENST00000509897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl413,577,581 - 13,580,066 (-)Ensembl
RefSeq Acc Id: ENST00000511119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl413,582,230 - 13,593,520 (-)Ensembl
RefSeq Acc Id: NM_148894   ⟹   NP_683692
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,627,725 (-)NCBI
GRCh37413,570,362 - 13,629,334 (-)NCBI
Build 36413,179,464 - 13,238,426 (-)NCBI Archive
Celera414,036,574 - 14,095,541 (-)RGD
HuRef412,908,016 - 12,967,039 (-)RGD
CHM1_1413,568,964 - 13,627,876 (-)NCBI
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248150   ⟹   XP_005248207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,627,725 (-)NCBI
GRCh37413,570,362 - 13,629,334 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248151   ⟹   XP_005248208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,627,725 (-)NCBI
GRCh37413,570,362 - 13,629,334 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713958   ⟹   XP_006714021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,627,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513827   ⟹   XP_011512129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,627,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513829   ⟹   XP_011512131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,627,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513830   ⟹   XP_011512132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,615,364 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008009   ⟹   XP_016863498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,627,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008010   ⟹   XP_016863499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,568,738 - 13,627,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047450037   ⟹   XP_047305993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,570,135 - 13,627,725 (-)NCBI
RefSeq Acc Id: XM_054349622   ⟹   XP_054205597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBI
RefSeq Acc Id: XM_054349623   ⟹   XP_054205598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBI
RefSeq Acc Id: XM_054349624   ⟹   XP_054205599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBI
RefSeq Acc Id: XM_054349625   ⟹   XP_054205600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBI
RefSeq Acc Id: XM_054349626   ⟹   XP_054205601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,549,826 - 13,607,428 (-)NCBI
RefSeq Acc Id: XM_054349627   ⟹   XP_054205602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBI
RefSeq Acc Id: XM_054349628   ⟹   XP_054205603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBI
RefSeq Acc Id: XM_054349629   ⟹   XP_054205604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,548,429 - 13,607,428 (-)NCBI
RefSeq Acc Id: XM_054349630   ⟹   XP_054205605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0413,548,429 - 13,595,065 (-)NCBI
Protein Sequences
Protein RefSeqs NP_683692 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248207 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248208 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714021 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512129 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512131 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512132 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863498 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863499 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305993 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205597 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205598 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205599 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205600 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205601 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205602 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205603 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205604 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205605 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH16987 (Get FASTA)   NCBI Sequence Viewer  
  AAH65546 (Get FASTA)   NCBI Sequence Viewer  
  AAH87835 (Get FASTA)   NCBI Sequence Viewer  
  AAM94279 (Get FASTA)   NCBI Sequence Viewer  
  BAA92565 (Get FASTA)   NCBI Sequence Viewer  
  BAB15299 (Get FASTA)   NCBI Sequence Viewer  
  BAG60410 (Get FASTA)   NCBI Sequence Viewer  
  CAB70705 (Get FASTA)   NCBI Sequence Viewer  
  EAW92716 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000040738
  ENSP00000040738.5
  ENSP00000420541.1
  ENSP00000425492
  ENSP00000425492.2
GenBank Protein Q8NFC6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_683692   ⟸   NM_148894
- UniProtKB: Q9NTD6 (UniProtKB/Swiss-Prot),   Q9H6G0 (UniProtKB/Swiss-Prot),   Q96AL1 (UniProtKB/Swiss-Prot),   Q6P0M8 (UniProtKB/Swiss-Prot),   Q9P2L9 (UniProtKB/Swiss-Prot),   Q8NFC6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248208   ⟸   XM_005248151
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005248207   ⟸   XM_005248150
- Peptide Label: isoform X3
- UniProtKB: H0Y9Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714021   ⟸   XM_006713958
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011512131   ⟸   XM_011513829
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011512129   ⟸   XM_011513827
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011512132   ⟸   XM_011513830
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016863499   ⟸   XM_017008010
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016863498   ⟸   XM_017008009
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000425492   ⟸   ENST00000507943
RefSeq Acc Id: ENSP00000420541   ⟸   ENST00000482713
RefSeq Acc Id: ENSP00000040738   ⟸   ENST00000040738
RefSeq Acc Id: XP_047305993   ⟸   XM_047450037
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054205604   ⟸   XM_054349629
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054205600   ⟸   XM_054349625
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054205603   ⟸   XM_054349628
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054205598   ⟸   XM_054349623
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054205599   ⟸   XM_054349624
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054205602   ⟸   XM_054349627
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054205597   ⟸   XM_054349622
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054205605   ⟸   XM_054349630
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054205601   ⟸   XM_054349626
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NFC6-F1-model_v2 AlphaFold Q8NFC6 1-1400 view protein structure
AF-Q8NFC6-F2-model_v2 AlphaFold Q8NFC6 201-1600 view protein structure
AF-Q8NFC6-F3-model_v2 AlphaFold Q8NFC6 401-1800 view protein structure
AF-Q8NFC6-F4-model_v2 AlphaFold Q8NFC6 601-2000 view protein structure
AF-Q8NFC6-F5-model_v2 AlphaFold Q8NFC6 801-2200 view protein structure
AF-Q8NFC6-F6-model_v2 AlphaFold Q8NFC6 1001-2400 view protein structure
AF-Q8NFC6-F7-model_v2 AlphaFold Q8NFC6 1201-2600 view protein structure
AF-Q8NFC6-F8-model_v2 AlphaFold Q8NFC6 1401-2800 view protein structure
AF-Q8NFC6-F9-model_v2 AlphaFold Q8NFC6 1601-3000 view protein structure
AF-Q8NFC6-F10-model_v2 AlphaFold Q8NFC6 1801-3051 view protein structure

Promoters
RGD ID:6812493
Promoter ID:HG_ACW:58394
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:FAM44A.JAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36413,237,501 - 13,238,001 (-)MPROMDB
RGD ID:6802211
Promoter ID:HG_KWN:47894
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000273725,   ENST00000382426,   OTTHUMT00000207321,   UC010IDR.1,   UC010IDS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36413,238,179 - 13,238,679 (-)MPROMDB
RGD ID:6867058
Promoter ID:EPDNEW_H6694
Type:initiation region
Name:BOD1L1_1
Description:biorientation of chromosomes in cell division 1 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38413,627,725 - 13,627,785EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31792 AgrOrtholog
COSMIC BOD1L1 COSMIC
Ensembl Genes ENSG00000038219 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000040738 ENTREZGENE
  ENST00000040738.10 UniProtKB/Swiss-Prot
  ENST00000482713.1 UniProtKB/TrEMBL
  ENST00000507943 ENTREZGENE
  ENST00000507943.2 UniProtKB/TrEMBL
GTEx ENSG00000038219 GTEx
HGNC ID HGNC:31792 ENTREZGENE
Human Proteome Map BOD1L1 Human Proteome Map
InterPro Bod1-like UniProtKB/TrEMBL
  BOD1L1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:259282 UniProtKB/Swiss-Prot
NCBI Gene 259282 ENTREZGENE
OMIM 616746 OMIM
PANTHER BIORIENTATION OF CHROMOSOMES IN CELL DIVISION 1 LIKE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BIORIENTATION OF CHROMOSOMES IN CELL DIVISION PROTEIN 1-LIKE 1 UniProtKB/TrEMBL
  PTHR31532 UniProtKB/TrEMBL
  PTHR47391 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COMPASS-Shg1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164716652 PharmGKB
UniProt BD1L1_HUMAN UniProtKB/Swiss-Prot
  F8WDD0_HUMAN UniProtKB/TrEMBL
  H0Y9Y2 ENTREZGENE, UniProtKB/TrEMBL
  Q6P0M8 ENTREZGENE
  Q8NFC6 ENTREZGENE
  Q96AL1 ENTREZGENE
  Q9H6G0 ENTREZGENE
  Q9NTD6 ENTREZGENE
  Q9P2L9 ENTREZGENE
UniProt Secondary Q6P0M8 UniProtKB/Swiss-Prot
  Q96AL1 UniProtKB/Swiss-Prot
  Q9H6G0 UniProtKB/Swiss-Prot
  Q9NTD6 UniProtKB/Swiss-Prot
  Q9P2L9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 BOD1L1  biorientation of chromosomes in cell division 1 like 1    biorientation of chromosomes in cell division 1-like 1  Symbol and/or name change 5135510 APPROVED
2012-04-24 BOD1L1  biorientation of chromosomes in cell division 1-like 1  BOD1L  biorientation of chromosomes in cell division 1-like  Symbol and/or name change 5135510 APPROVED