HGH1 (HGH1 homolog) - Rat Genome Database

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Gene: HGH1 (HGH1 homolog) Homo sapiens
Analyze
Symbol: HGH1
Name: HGH1 homolog
RGD ID: 1602718
HGNC Page HGNC
Description: ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome 2; epidermolysis bullosa simplex with muscular dystrophy; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; acrylamide; bisphenol F
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: brain protein 16; brain protein 16-like; BRP16; BRP16L; C8orf30A; C8orf30B; FAM203A; FAM203B; family with sequence similarity 203, member A; family with sequence similarity 203, member B; FLJ40907
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
GRCh38.p13 Ensembl8144,137,774 - 144,140,851 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,137,721 - 144,140,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,192,677 - 145,195,754 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,264,660 - 145,267,607 (+)NCBINCBI36hg18NCBI36
Celera8141,536,483 - 141,538,889 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,474,997 - 140,477,945 (+)NCBIHuRef
CHM1_18145,204,700 - 145,256,203 (+)NCBICHM1_1
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

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11042152   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16421571   PMID:18669648   PMID:19413330   PMID:20068231   PMID:20562859   PMID:21269460   PMID:22190034  
PMID:22814378   PMID:22863883   PMID:25036637   PMID:26124079   PMID:26186194   PMID:26496610   PMID:26972000   PMID:28378594   PMID:28514442   PMID:29053956   PMID:31073040   PMID:31617661  
PMID:32838362  


Genomics

Comparative Map Data
HGH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,137,774 - 144,140,851 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,137,721 - 144,140,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,192,677 - 145,195,754 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,264,660 - 145,267,607 (+)NCBINCBI36hg18NCBI36
Celera8141,536,483 - 141,538,889 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,474,997 - 140,477,945 (+)NCBIHuRef
CHM1_18145,204,700 - 145,256,203 (+)NCBICHM1_1
Hgh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,253,064 - 76,256,054 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,253,098 - 76,255,637 (+)Ensembl
GRCm381576,368,864 - 76,371,854 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,368,898 - 76,371,437 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,199,328 - 76,201,841 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,196,153 - 76,198,683 (+)NCBImm8
Celera1577,868,970 - 77,871,522 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.78NCBI
Hgh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,091,918 - 108,094,740 (+)NCBI
Rnor_6.0 Ensembl7117,434,419 - 117,437,205 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,434,419 - 117,437,208 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,422,049 - 117,424,838 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,419,030 - 114,421,819 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,453,259 - 114,456,048 (+)NCBI
Celera7104,444,276 - 104,447,065 (+)NCBICelera
Cytogenetic Map7q34NCBI
Hgh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,788,020 - 2,789,783 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,788,014 - 2,790,902 (+)NCBIChiLan1.0ChiLan1.0
HGH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,882,676 - 143,897,001 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08140,902,291 - 140,905,270 (+)NCBIMhudiblu_PPA_v0panPan3
HGH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,621,587 - 37,624,523 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,621,605 - 37,623,973 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,585,439 - 37,588,363 (+)NCBI
ROS_Cfam_1.01338,098,003 - 38,100,927 (+)NCBI
UMICH_Zoey_3.11337,770,030 - 37,772,954 (+)NCBI
UNSW_CanFamBas_1.01337,898,693 - 37,901,616 (+)NCBI
UU_Cfam_GSD_1.01338,374,910 - 38,377,834 (+)NCBI
Hgh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303632,676 - 634,929 (-)NCBI
SpeTri2.0NW_0049364708,058,775 - 8,061,025 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HGH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4581,751 - 585,035 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14581,751 - 585,029 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24735,009 - 738,159 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HGH1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,347,835 - 138,350,791 (+)NCBI
ChlSab1.1 Ensembl8138,347,922 - 138,349,671 (+)Ensembl
Hgh1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,682,233 - 12,685,190 (-)NCBI

Position Markers
SGC31287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,438,461 - 145,438,541UniSTSGRCh37
GRCh378145,193,253 - 145,193,333UniSTSGRCh37
Build 368145,265,241 - 145,265,321RGDNCBI36
Celera8141,536,522 - 141,536,602RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,475,578 - 140,475,658UniSTS
Whitehead-RH Map8720.4UniSTS
RH11627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,440,593 - 145,440,805UniSTSGRCh37
GRCh378145,195,385 - 145,195,597UniSTSGRCh37
Build 368145,267,373 - 145,267,585RGDNCBI36
Celera8141,538,654 - 141,538,866RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,477,710 - 140,477,922UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2978
Count of miRNA genes:887
Interacting mature miRNAs:1065
Transcripts:ENST00000347708, ENST00000525101, ENST00000530074, ENST00000530409, ENST00000533266, ENST00000534255
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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 1579 1226 1383 376 1000 247 3706 1140 1643 130 1259 1263 142 1006 2292 3
Low 852 1752 314 224 919 195 649 1052 2065 277 185 341 29 198 496 1
Below cutoff 1 6 26 22 28 22 1 11 4 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000347708   ⟹   ENSP00000321320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,137,774 - 144,140,851 (+)Ensembl
RefSeq Acc Id: ENST00000525101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,138,683 - 144,139,420 (+)Ensembl
RefSeq Acc Id: ENST00000530074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,137,810 - 144,138,797 (+)Ensembl
RefSeq Acc Id: ENST00000530409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,138,466 - 144,139,108 (+)Ensembl
RefSeq Acc Id: ENST00000533266   ⟹   ENSP00000431970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,137,804 - 144,140,724 (+)Ensembl
RefSeq Acc Id: ENST00000534255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,138,759 - 144,140,713 (+)Ensembl
RefSeq Acc Id: ENST00000628266   ⟹   ENSP00000486087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,137,836 - 144,138,364 (+)Ensembl
RefSeq Acc Id: NM_016458   ⟹   NP_057542
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,137,774 - 144,140,851 (+)NCBI
GRCh378145,192,672 - 145,195,620 (+)RGD
Build 368145,264,660 - 145,267,607 (+)NCBI Archive
Celera8141,536,483 - 141,538,889 (+)RGD
HuRef8140,474,997 - 140,477,945 (+)ENTREZGENE
CHM1_18145,204,700 - 145,256,203 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745537
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,137,721 - 144,139,100 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057542   ⟸   NM_016458
- UniProtKB: Q9BTY7 (UniProtKB/Swiss-Prot),   Q96BK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000321320   ⟸   ENST00000347708
RefSeq Acc Id: ENSP00000431970   ⟸   ENST00000533266
RefSeq Acc Id: ENSP00000486087   ⟸   ENST00000628266
Protein Domains
DUF383   DUF384

Promoters
RGD ID:7214441
Promoter ID:EPDNEW_H12965
Type:initiation region
Name:HGH1_1
Description:HGH1 homolog
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
GRCh388144,137,774 - 144,137,834EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144132479-144277712)x3 copy number gain See cases [RCV000140817] Chr8:144132479..144277712 [GRCh38]
Chr8:145319810..145493555 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting data from submitters
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24161 AgrOrtholog
COSMIC HGH1 COSMIC
Ensembl Genes ENSG00000235173 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000321320 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431970 UniProtKB/TrEMBL
  ENSP00000486087 UniProtKB/TrEMBL
Ensembl Transcript ENST00000347708 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533266 UniProtKB/TrEMBL
  ENST00000628266 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000235173 GTEx
HGNC ID HGNC:24161 ENTREZGENE
Human Proteome Map HGH1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hgh1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_HGH1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_HGH1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51236 ENTREZGENE
PANTHER PTHR13387 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF384 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672348 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PIX0_HUMAN UniProtKB/TrEMBL
  HGH1_HUMAN UniProtKB/Swiss-Prot
  Q96BK8 ENTREZGENE, UniProtKB/TrEMBL
  Q9BTY7 ENTREZGENE
UniProt Secondary E9PSG3 UniProtKB/TrEMBL
  P0CB43 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-15 HGH1  HGH1 homolog  FAM203B  family with sequence similarity 203, member B  Data Merged 737654 PROVISIONAL
2015-07-07 HGH1  HGH1 homolog    HGH1 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2014-06-24 HGH1  HGH1 homolog (S. cerevisiae)  FAM203A  family with sequence similarity 203, member A  Symbol and/or name change 5135510 APPROVED
2011-07-27 FAM203A  family with sequence similarity 203, member A  C8orf30A  chromosome 8 open reading frame 30A  Symbol and/or name change 5135510 APPROVED
2011-07-27 FAM203B  family with sequence similarity 203, member B  C8orf30B  chromosome 8 open reading frame 30B  Symbol and/or name change 5135510 APPROVED