HSBP1L1 (heat shock factor binding protein 1 like 1) - Rat Genome Database

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Gene: HSBP1L1 (heat shock factor binding protein 1 like 1) Homo sapiens
Analyze
Symbol: HSBP1L1
Name: heat shock factor binding protein 1 like 1
RGD ID: 2902676
HGNC Page HGNC:37243
Description: Predicted to enable transcription corepressor activity. Predicted to be involved in cellular heat acclimation. Predicted to be active in cytosol and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ10967; heat shock factor binding protein 1-like; heat shock factor binding protein 1-like 1; heat shock factor-binding protein 1-like protein 1; MGC189743
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381879,964,643 - 79,970,822 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1879,964,582 - 79,970,822 (+)EnsemblGRCh38hg38GRCh38
GRCh371877,724,643 - 77,730,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera1874,497,054 - 74,503,294 (+)NCBICelera
Cytogenetic Map18q23NCBI
HuRef1874,346,093 - 74,352,276 (+)NCBIHuRef
CHM1_11877,719,806 - 77,726,128 (+)NCBICHM1_1
T2T-CHM13v2.01880,241,167 - 80,247,343 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA)
nucleus  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:21873635   PMID:27609421   PMID:32296183  


Genomics

Comparative Map Data
HSBP1L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381879,964,643 - 79,970,822 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1879,964,582 - 79,970,822 (+)EnsemblGRCh38hg38GRCh38
GRCh371877,724,643 - 77,730,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera1874,497,054 - 74,503,294 (+)NCBICelera
Cytogenetic Map18q23NCBI
HuRef1874,346,093 - 74,352,276 (+)NCBIHuRef
CHM1_11877,719,806 - 77,726,128 (+)NCBICHM1_1
T2T-CHM13v2.01880,241,167 - 80,247,343 (+)NCBIT2T-CHM13v2.0
Hsbp1l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391880,272,154 - 80,293,329 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1880,272,973 - 80,290,317 (-)EnsemblGRCm39 Ensembl
GRCm381880,228,939 - 80,250,102 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1880,229,758 - 80,247,102 (-)EnsemblGRCm38mm10GRCm38
MGSCv371880,426,490 - 80,443,841 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361880,391,817 - 80,409,161 (-)NCBIMGSCv36mm8
Celera1881,350,525 - 81,367,548 (-)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1853.35NCBI
Hsbp1l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81875,957,266 - 75,963,024 (-)NCBIGRCr8
mRatBN7.21873,682,286 - 73,690,061 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1873,682,286 - 73,688,045 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1875,783,856 - 75,790,378 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01876,453,204 - 76,459,724 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01874,298,776 - 74,305,223 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01876,748,067 - 76,754,642 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1876,748,067 - 76,753,902 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01872,052,983 - 72,059,978 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41877,128,897 - 77,134,655 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1872,344,335 - 72,350,093 (-)NCBICelera
Cytogenetic Map18q12.3NCBI
HSBP1L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21797,600,720 - 97,606,818 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11883,292,577 - 83,300,113 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01873,608,483 - 73,615,823 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11876,916,883 - 76,934,867 (+)NCBIpanpan1.1PanPan1.1panPan2
HSBP1L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11743,321 - 747,401 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1744,458 - 747,200 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha11,745,339 - 1,749,423 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01541,086 - 545,171 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1542,223 - 544,965 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11594,132 - 598,216 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01539,473 - 543,558 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01710,687 - 714,772 (-)NCBIUU_Cfam_GSD_1.0
Hsbp1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494414,924,261 - 14,927,519 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936616244,940 - 248,499 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936616244,940 - 249,941 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSBP1L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6127,960,266 - 127,973,191 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16127,960,330 - 127,972,241 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21310,143,358 - 310,155,267 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HSBP1L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.118288,772 - 294,717 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl18288,789 - 294,367 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606026,023,400 - 26,028,661 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hsbp1l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624806381,400 - 420,347 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSBP1L1
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 copy number loss See cases [RCV000050985] Chr18:64950938..80252149 [GRCh38]
Chr18:62618174..78010032 [GRCh37]
Chr18:60769154..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 copy number gain See cases [RCV000052573] Chr18:64747528..80252290 [GRCh38]
Chr18:62414764..78010173 [GRCh37]
Chr18:60565744..76111164 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:75300296-80252149)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052574]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052574]|See cases [RCV000052574] Chr18:75300296..80252149 [GRCh38]
Chr18:73012251..78010032 [GRCh37]
Chr18:71141239..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 copy number loss See cases [RCV000053876] Chr18:63988650..80252149 [GRCh38]
Chr18:61655884..78010032 [GRCh37]
Chr18:59806864..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1 copy number loss See cases [RCV000053905] Chr18:69288245..80252149 [GRCh38]
Chr18:66955481..78010032 [GRCh37]
Chr18:65106461..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q23(chr18:75843868-80209986)x1 copy number loss See cases [RCV000053907] Chr18:75843868..80209986 [GRCh38]
Chr18:73555823..77967869 [GRCh37]
Chr18:71684811..76068860 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q23(chr18:78869005-80252149)x1 copy number loss See cases [RCV000053908] Chr18:78869005..80252149 [GRCh38]
Chr18:76629005..78010032 [GRCh37]
Chr18:74729993..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q23(chr18:78892487-80209986)x1 copy number loss See cases [RCV000053909] Chr18:78892487..80209986 [GRCh38]
Chr18:76652487..77967869 [GRCh37]
Chr18:74753475..76068860 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:74241380-78013620)x1 copy number loss See cases [RCV000184081] Chr18:74241380..78013620 [GRCh37]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1 copy number loss See cases [RCV000133824] Chr18:69200589..80252149 [GRCh38]
Chr18:66867826..78010032 [GRCh37]
Chr18:65018806..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q23(chr18:77263709-80252149)x1 copy number loss See cases [RCV000133678] Chr18:77263709..80252149 [GRCh38]
Chr18:74975665..78010032 [GRCh37]
Chr18:73104653..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1 copy number loss See cases [RCV000135818] Chr18:71067804..80252149 [GRCh38]
Chr18:68735040..78010032 [GRCh37]
Chr18:66886020..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1 copy number loss See cases [RCV000135539] Chr18:72426712..80252149 [GRCh38]
Chr18:70093947..78010032 [GRCh37]
Chr18:68244927..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1 copy number loss See cases [RCV000136555] Chr18:67772576..80252149 [GRCh38]
Chr18:65439813..78010032 [GRCh37]
Chr18:63590793..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1 copy number loss See cases [RCV000136122] Chr18:68417596..80252149 [GRCh38]
Chr18:66084833..78010032 [GRCh37]
Chr18:64235813..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q23(chr18:79922576-80252149)x1 copy number loss See cases [RCV000136591] Chr18:79922576..80252149 [GRCh38]
Chr18:77682576..78010032 [GRCh37]
Chr18:75783564..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q23(chr18:75988877-80252149)x1 copy number loss See cases [RCV000136899] Chr18:75988877..80252149 [GRCh38]
Chr18:73700832..78010032 [GRCh37]
Chr18:71829820..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 copy number loss See cases [RCV000136911] Chr18:65693588..80252149 [GRCh38]
Chr18:63360824..78010032 [GRCh37]
Chr18:61511804..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q23(chr18:75424051-80224243)x1 copy number loss See cases [RCV000136774] Chr18:75424051..80224243 [GRCh38]
Chr18:73136006..77982126 [GRCh37]
Chr18:71264994..76083117 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1 copy number loss See cases [RCV000137431] Chr18:68830234..80254946 [GRCh38]
Chr18:66497471..78012829 [GRCh37]
Chr18:64648451..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 copy number loss See cases [RCV000137598] Chr18:65658824..80254946 [GRCh38]
Chr18:63326060..78012829 [GRCh37]
Chr18:61477040..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1 copy number loss See cases [RCV000137379] Chr18:68563422..80254946 [GRCh38]
Chr18:66230659..78012829 [GRCh37]
Chr18:64381639..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q23(chr18:78507911-80254946)x1 copy number loss See cases [RCV000138149] Chr18:78507911..80254946 [GRCh38]
Chr18:76267911..78012829 [GRCh37]
Chr18:74368899..76113817 [NCBI36]
Chr18:18q23		 uncertain significance
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1 copy number loss See cases [RCV000137808] Chr18:66190016..80254946 [GRCh38]
Chr18:63857253..78012829 [GRCh37]
Chr18:62008233..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 copy number loss See cases [RCV000138707] Chr18:64747728..80254946 [GRCh38]
Chr18:62414964..78012829 [GRCh37]
Chr18:60565944..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3 copy number gain See cases [RCV000138718] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1 copy number loss See cases [RCV000138719] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1 copy number loss See cases [RCV000138491] Chr18:72043906..80254936 [GRCh38]
Chr18:69711141..78012819 [GRCh37]
Chr18:67862121..76113807 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1 copy number loss See cases [RCV000138248] Chr18:69650802..80254946 [GRCh38]
Chr18:67318038..78012829 [GRCh37]
Chr18:65469018..76113817 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1 copy number loss See cases [RCV000138638] Chr18:66649227..80254936 [GRCh38]
Chr18:64316464..78012819 [GRCh37]
Chr18:62467444..76113807 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3 copy number gain See cases [RCV000139457] Chr18:71872883..80254946 [GRCh38]
Chr18:69540119..78012829 [GRCh37]
Chr18:67691099..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 copy number loss See cases [RCV000139464] Chr18:63756916..80254946 [GRCh38]
Chr18:61424150..78012829 [GRCh37]
Chr18:59575130..76113817 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q23(chr18:75875505-80252090)x1 copy number loss See cases [RCV000141361] Chr18:75875505..80252090 [GRCh38]
Chr18:73587460..78009973 [GRCh37]
Chr18:71716448..76110964 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1 copy number loss See cases [RCV000140899] Chr18:68340002..80256240 [GRCh38]
Chr18:66007239..78014123 [GRCh37]
Chr18:64158219..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q23(chr18:75946906-80252149)x1 copy number loss See cases [RCV000142371] Chr18:75946906..80252149 [GRCh38]
Chr18:73658861..78010032 [GRCh37]
Chr18:71787849..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 copy number loss See cases [RCV000142176] Chr18:66456349..80256240 [GRCh38]
Chr18:64123586..78014123 [GRCh37]
Chr18:62274566..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3 copy number gain See cases [RCV000142689] Chr18:67686362..80252149 [GRCh38]
Chr18:65353599..78010032 [GRCh37]
Chr18:63504579..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18q23(chr18:76635470-80252149)x1 copy number loss See cases [RCV000142580] Chr18:76635470..80252149 [GRCh38]
Chr18:74347427..78010032 [GRCh37]
Chr18:72476415..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1 copy number loss See cases [RCV000143196] Chr18:72639340..80254946 [GRCh38]
Chr18:70306575..78012829 [GRCh37]
Chr18:68457555..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1 copy number loss See cases [RCV000143557] Chr18:68857904..80256240 [GRCh38]
Chr18:66525141..78014123 [GRCh37]
Chr18:64676121..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q23(chr18:76399247-78015180)x1 copy number loss See cases [RCV000515586] Chr18:76399247..78015180 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q23(chr18:77474454-77875481)x3 copy number gain See cases [RCV000240400] Chr18:77474454..77875481 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71078132-78005236)x3 copy number gain See cases [RCV000240461] Chr18:71078132..78005236 [GRCh37]
Chr18:18q22.3-23		 pathogenic
NC_000018.9:g.73376178_78077248del4701071 copy number loss Burn-McKeown syndrome [RCV000239622] Chr18:73376178..78077248 [GRCh37] pathogenic
NC_000018.9:g.77421290_77904990del483701 copy number loss Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome [RCV000239624] Chr18:77421290..77904990 [GRCh37]
Chr18:18q23		 pathogenic
NC_000018.9:g.76841645_78077248del1235604 copy number loss Burn-McKeown syndrome [RCV000239653] Chr18:76841645..78077248 [GRCh37] pathogenic
NC_000018.9:g.76854774_78077248del1222475 copy number loss Burn-McKeown syndrome [RCV000239696] Chr18:76854774..78077248 [GRCh37] pathogenic
NC_000018.9:g.76854774_78077248del1222475 deletion Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome [RCV000239696] Chr18:76854774..78077248 [GRCh37]
Chr18:18q23		 pathogenic
NC_000018.9:g.73376178_78077248del4701071 deletion Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome [RCV000239622] Chr18:73376178..78077248 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23		 likely pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1 copy number loss See cases [RCV000446791] Chr18:65648458..78005185 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q23(chr18:77274107-77923180)x3 copy number gain See cases [RCV000447089] Chr18:77274107..77923180 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:77098565-78014123)x1 copy number loss See cases [RCV000446496] Chr18:77098565..78014123 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000447117] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:77590179-77803500)x3 copy number gain See cases [RCV000447408] Chr18:77590179..77803500 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:77351707-78014123)x1 copy number loss See cases [RCV000447048] Chr18:77351707..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:74064964-78014123)x3 copy number gain See cases [RCV000447136] Chr18:74064964..78014123 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:76660408-78014123)x1 copy number loss See cases [RCV000510334] Chr18:76660408..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1 copy number loss See cases [RCV000511752] Chr18:64524888..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70340543-78014123)x1 copy number loss See cases [RCV000511232] Chr18:70340543..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1 copy number loss See cases [RCV000510824] Chr18:66625843..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1 copy number loss See cases [RCV000515583] Chr18:61802304..78015180 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NC_000018.9:g.76841645_78077248del1235604 deletion Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome [RCV000239653] Chr18:76841645..78077248 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1 copy number loss See cases [RCV000512607] Chr18:61673145..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1 copy number loss See cases [RCV000512218] Chr18:67431406..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000512281] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q23(chr18:73214538-78014123)x1 copy number loss not provided [RCV000684042] Chr18:73214538..78014123 [GRCh37]
Chr18:18q23		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1 copy number loss not provided [RCV000684047] Chr18:67082104..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1 copy number loss not provided [RCV000684049] Chr18:64764747..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1 copy number loss not provided [RCV000684050] Chr18:64610595..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q23(chr18:75135713-78014123)x3 copy number gain not provided [RCV000684034] Chr18:75135713..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:74472294-78014123)x3 copy number gain not provided [RCV000684039] Chr18:74472294..78014123 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:77274107-77799676)x3 copy number gain not provided [RCV000684004] Chr18:77274107..77799676 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not provided [RCV000684045] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q23(chr18:77100937-77783404)x3 copy number gain not provided [RCV000684008] Chr18:77100937..77783404 [GRCh37]
Chr18:18q23		 likely benign
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:68552596-78015180)x1 copy number loss not provided [RCV000739867] Chr18:68552596..78015180 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:77325446-78015180)x1 copy number loss not provided [RCV000739899] Chr18:77325446..78015180 [GRCh37]
Chr18:18q23		 benign
GRCh37/hg19 18q23(chr18:74285842-78010032)x1 copy number loss not provided [RCV000762707] Chr18:74285842..78010032 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1 copy number loss not provided [RCV003312421] Chr18:71740696..78005231 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:73528968-78015180)x1 copy number loss not provided [RCV000752412] Chr18:73528968..78015180 [GRCh37]
Chr18:18q23		 pathogenic
Single allele deletion Intestinal malrotation [RCV000754988] Chr18:64876751..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1 copy number loss not provided [RCV001007023] Chr18:70383594..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q23(chr18:75146662-78014582) copy number gain not provided [RCV000767812] Chr18:75146662..78014582 [GRCh37]
Chr18:18q23		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787397] Chr18:62984563..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:77656498-77786704)x3 copy number gain not provided [RCV000848065] Chr18:77656498..77786704 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:73158604-78015180)x1 copy number loss See cases [RCV001007418] Chr18:73158604..78015180 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847255] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847258] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1 copy number loss not provided [RCV001007021] Chr18:67551299..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1 copy number loss not provided [RCV002472600] Chr18:66530142..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q23(chr18:75494800-78014123)x3 copy number gain not provided [RCV001007024] Chr18:75494800..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1 copy number loss not provided [RCV001007020] Chr18:63247046..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:77435786-77898410)x3 copy number gain not provided [RCV001007015] Chr18:77435786..77898410 [GRCh37]
Chr18:18q23		 likely benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1 copy number loss not provided [RCV001007022] Chr18:70212733..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1 copy number loss not provided [RCV001259363] Chr18:70835154..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 copy number gain not provided [RCV001259360] Chr18:63747519..78014123 [GRCh37]
Chr18:18q22.1-23		 likely pathogenic
GRCh37/hg19 18q23(chr18:77455823-77891586)x3 copy number gain not provided [RCV001259366] Chr18:77455823..77891586 [GRCh37]
Chr18:18q23		 likely benign
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:75797336-78014123) copy number loss not specified [RCV002052665] Chr18:75797336..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123) copy number loss not specified [RCV002052647] Chr18:58305972..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:76304293-77982228) copy number gain not specified [RCV002052666] Chr18:76304293..77982228 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:77351707-78014123) copy number loss not specified [RCV002052668] Chr18:77351707..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:77590179-77803500) copy number gain not specified [RCV002052672] Chr18:77590179..77803500 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.3-23(chr18:70333866-78014123) copy number loss not specified [RCV002052662] Chr18:70333866..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q23(chr18:77274107-77923180) copy number gain not specified [RCV002052667] Chr18:77274107..77923180 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:77546536-77789266)x1 copy number loss not provided [RCV001829189] Chr18:77546536..77789266 [GRCh37]
Chr18:18q23		 likely benign
NC_000018.9:g.(?_76773973)_(77748392_?)del deletion not provided [RCV003113572] Chr18:76773973..77748392 [GRCh37]
Chr18:18q23		 uncertain significance
NC_000018.9:g.(?_76773973)_(77748392_?)dup duplication not provided [RCV003113578] Chr18:76773973..77748392 [GRCh37]
Chr18:18q23		 uncertain significance
Single allele deletion Pulmonary valve stenosis [RCV002247713] Chr18:69541066..80373285 [GRCh38]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV002280712] Chr18:61289055..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1 copy number loss See cases [RCV002293965] Chr18:72669936..77889946 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:77685396-78014123)x1 copy number loss not provided [RCV002472867] Chr18:77685396..78014123 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1 copy number loss not provided [RCV002472513] Chr18:61520071..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:76926426-78014123)x1 copy number loss not provided [RCV002472406] Chr18:76926426..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1 copy number loss Deletion of long arm of chromosome 18 [RCV003225711] Chr18:66459747..78012829 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV003319595] Chr18:66057406..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1 copy number loss not provided [RCV003326989] Chr18:63476940..77960815 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1 copy number loss not provided [RCV003483343] Chr18:71401603..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1 copy number loss not provided [RCV003483341] Chr18:60771809..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not specified [RCV003987276] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1 copy number loss not specified [RCV003987279] Chr18:63427506..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1 copy number loss not specified [RCV003987280] Chr18:72453821..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3 copy number gain not provided [RCV004442786] Chr18:65549783..78013728 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_001136180.2(HSBP1L1):c.25C>T (p.Pro9Ser) single nucleotide variant not specified [RCV004633165] Chr18:79964760 [GRCh38]
Chr18:77724760 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001136180.2(HSBP1L1):c.172A>G (p.Met58Val) single nucleotide variant not specified [RCV004404417] Chr18:79968142 [GRCh38]
Chr18:77728142 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 copy number gain not provided [RCV004819319] Chr18:19309942..78014123 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:74893739-78014123)x1 copy number loss not provided [RCV004819903] Chr18:74893739..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001136180.2(HSBP1L1):c.98C>G (p.Thr33Arg) single nucleotide variant not specified [RCV004928971] Chr18:79966658 [GRCh38]
Chr18:77726658 [GRCh37]
Chr18:18q23		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:867
Count of miRNA genes:535
Interacting mature miRNAs:583
Transcripts:ENST00000451882, ENST00000587347, ENST00000589516, ENST00000590571, ENST00000592352
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1549953MULTSCL1_HMultiple sclerosis susceptibility QTL 1 (human)3.42Multiple sclerosis susceptibility186405627080373285Human
597399344GWAS1495418_Hschizophrenia QTL GWAS1495418 (human)0.0000001schizophrenia187996804579968046Human
597116984GWAS1213058_Hself reported educational attainment QTL GWAS1213058 (human)4e-10self reported educational attainment187996472679964727Human

Markers in Region
RH45894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,726,646 - 77,726,823UniSTSGRCh37
Build 361875,827,634 - 75,827,811RGDNCBI36
Celera1874,499,118 - 74,499,295RGD
Cytogenetic Map18q23UniSTS
HuRef1874,348,157 - 74,348,334UniSTS
GeneMap99-GB4 RH Map18474.45UniSTS
STS-N32189  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q23UniSTS
GeneMap99-GB4 RH Map18475.88UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1947 465 2270 7302 6468 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000451882   ⟹   ENSP00000414236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,964,643 - 79,970,822 (+)Ensembl
Ensembl Acc Id: ENST00000587347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,967,493 - 79,970,805 (+)Ensembl
Ensembl Acc Id: ENST00000589516   ⟹   ENSP00000467108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,964,630 - 79,970,735 (+)Ensembl
Ensembl Acc Id: ENST00000590571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,970,043 - 79,970,817 (+)Ensembl
Ensembl Acc Id: ENST00000592352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,964,582 - 79,966,970 (+)Ensembl
RefSeq Acc Id: NM_001136180   ⟹   NP_001129652
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,964,643 - 79,970,822 (+)NCBI
GRCh371877,724,582 - 77,730,822 (+)RGD
Celera1874,497,054 - 74,503,294 (+)RGD
HuRef1874,346,093 - 74,352,276 (+)RGD
CHM1_11877,719,806 - 77,726,128 (+)NCBI
T2T-CHM13v2.01880,241,167 - 80,247,343 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129652 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI57849 (Get FASTA)   NCBI Sequence Viewer  
  C9JCN9 (Get FASTA)   NCBI Sequence Viewer  
  EAW66638 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000414236
  ENSP00000414236.1
  ENSP00000467108.1
RefSeq Acc Id: NP_001129652   ⟸   NM_001136180
- UniProtKB: B2RXG9 (UniProtKB/Swiss-Prot),   C9JCN9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000414236   ⟸   ENST00000451882
Ensembl Acc Id: ENSP00000467108   ⟸   ENST00000589516

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-C9JCN9-F1-model_v2 AlphaFold C9JCN9 1-74 view protein structure

Promoters
RGD ID:7237657
Promoter ID:EPDNEW_H24574
Type:initiation region
Name:HSBP1L1_1
Description:heat shock factor binding protein 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
GRCh381879,964,643 - 79,964,703EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37243 AgrOrtholog
COSMIC HSBP1L1 COSMIC
Ensembl Genes ENSG00000226742 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000451882 ENTREZGENE
  ENST00000451882.3 UniProtKB/Swiss-Prot
  ENST00000589516.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.430 UniProtKB/Swiss-Prot
GTEx ENSG00000226742 GTEx
HGNC ID HGNC:37243 ENTREZGENE
Human Proteome Map HSBP1L1 Human Proteome Map
InterPro HS1-bd UniProtKB/Swiss-Prot
KEGG Report hsa:440498 UniProtKB/Swiss-Prot
NCBI Gene 440498 ENTREZGENE
PANTHER HEAT SHOCK FACTOR-BINDING PROTEIN 1-LIKE PROTEIN 1 UniProtKB/Swiss-Prot
  PTHR19424 UniProtKB/Swiss-Prot
Pfam HSBP1 UniProtKB/Swiss-Prot
PharmGKB PA165429036 PharmGKB
UniProt B2RXG9 ENTREZGENE
  C9JCN9 ENTREZGENE, UniProtKB/Swiss-Prot
  K7ENV5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RXG9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 HSBP1L1  heat shock factor binding protein 1 like 1    heat shock factor binding protein 1-like 1  Symbol and/or name change 5135510 APPROVED