HHLA1 (HERV-H LTR-associating 1) - Rat Genome Database

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Gene: HHLA1 (HERV-H LTR-associating 1) Homo sapiens
Analyze
Symbol: HHLA1
Name: HERV-H LTR-associating 1
RGD ID: 1353531
HGNC Page HGNC
Description: Predicted to localize to extracellular region; INTERACTS WITH benzo[a]pyrene; titanium dioxide (ortholog).
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: HERV-H LTR-associating protein 1; PLA2L
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 Ensembl8132,061,486 - 132,111,159 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,061,486 - 132,111,157 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,073,733 - 133,117,512 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,139,449 - 133,197,055 (-)NCBINCBI36hg18NCBI36
Build 348133,145,213 - 133,162,533NCBI
Celera8129,249,437 - 129,293,200 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,391,286 - 128,435,044 (-)NCBIHuRef
CHM1_18133,114,543 - 133,158,318 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8382789   PMID:10329003   PMID:14702039   PMID:20585627   PMID:31586073  


Genomics

Comparative Map Data
HHLA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8132,061,486 - 132,111,159 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,061,486 - 132,111,157 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,073,733 - 133,117,512 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,139,449 - 133,197,055 (-)NCBINCBI36hg18NCBI36
Build 348133,145,213 - 133,162,533NCBI
Celera8129,249,437 - 129,293,200 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,391,286 - 128,435,044 (-)NCBIHuRef
CHM1_18133,114,543 - 133,158,318 (-)NCBICHM1_1
Hhla1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391565,794,292 - 65,848,653 (-)NCBIGRCm39mm39
GRCm39 Ensembl1565,788,458 - 65,848,653 (-)Ensembl
GRCm381565,922,443 - 65,976,804 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1565,916,609 - 65,976,804 (-)EnsemblGRCm38mm10GRCm38
MGSCv371565,754,005 - 65,808,366 (-)NCBIGRCm37mm9NCBIm37
MGSCv361565,754,005 - 65,808,366 (-)NCBImm8
Celera1567,430,071 - 67,484,385 (-)NCBICelera
Cytogenetic Map15D1NCBI
Hhla1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2797,670,946 - 97,711,308 (-)NCBI
Rnor_6.0 Ensembl7106,663,424 - 106,695,570 (-)EnsemblRnor6.0rn6Rnor6.0
Hhla1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554616,745,714 - 6,774,493 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554616,738,022 - 6,774,493 (-)NCBIChiLan1.0ChiLan1.0
HHLA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18131,689,794 - 131,731,482 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8131,689,794 - 131,731,482 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08128,710,411 - 128,754,339 (-)NCBIMhudiblu_PPA_v0panPan3
HHLA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11328,716,928 - 28,751,272 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1328,717,603 - 28,751,272 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1328,689,957 - 28,724,103 (-)NCBI
ROS_Cfam_1.01329,071,735 - 29,105,932 (-)NCBI
UMICH_Zoey_3.11328,798,842 - 28,832,995 (-)NCBI
UNSW_CanFamBas_1.01328,898,520 - 28,932,699 (-)NCBI
UU_Cfam_GSD_1.01329,210,510 - 29,244,685 (-)NCBI
Hhla1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053039,606,294 - 9,639,545 (+)NCBI
SpeTri2.0NW_00493647017,032,679 - 17,065,033 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HHLA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl48,995,352 - 9,014,890 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.148,971,719 - 9,017,912 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.249,008,168 - 9,054,096 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HHLA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18126,508,204 - 126,545,327 (-)NCBI
ChlSab1.1 Ensembl8126,508,922 - 126,545,115 (-)Ensembl
Hhla1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473523,774,673 - 23,814,274 (+)NCBI

Position Markers
D8S557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,090,242 - 133,090,484UniSTSGRCh37
GRCh378133,090,345 - 133,090,481UniSTSGRCh37
Build 368133,159,424 - 133,159,666RGDNCBI36
Celera8129,266,044 - 129,266,180UniSTS
Celera8129,265,941 - 129,266,183RGD
Cytogenetic Map8q24UniSTS
HuRef8128,407,897 - 128,408,023UniSTS
HuRef8128,407,794 - 128,408,026UniSTS
Marshfield Genetic Map8145.97UniSTS
Marshfield Genetic Map8145.97RGD
Genethon Genetic Map8144.8UniSTS
TNG Radiation Hybrid Map864698.0UniSTS
deCODE Assembly Map8142.18UniSTS
GeneMap99-GB4 RH Map8508.31UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81493.7UniSTS
GeneMap99-G3 RH Map84187.0UniSTS
RH122232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,075,714 - 133,075,993UniSTSGRCh37
Build 368133,144,896 - 133,145,175RGDNCBI36
Celera8129,251,418 - 129,251,697RGD
Cytogenetic Map8q24UniSTS
HuRef8128,393,267 - 128,393,546UniSTS
TNG Radiation Hybrid Map864724.0UniSTS
D8S557  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
TNG Radiation Hybrid Map864698.0UniSTS
GeneMap99-GB4 RH Map8508.31UniSTS
NCBI RH Map81493.7UniSTS
GeneMap99-G3 RH Map84187.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1348
Count of miRNA genes:836
Interacting mature miRNAs:977
Transcripts:ENST00000414222, ENST00000434736, ENST00000473291
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 39 3 1 7 2 182 2 2 2 31 18 4
Low 80 1 21 11 71 13 34 36 50 28 68 151 5 1
Below cutoff 266 372 744 46 282 36 577 217 1544 40 531 710 12 273 273 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000414222   ⟹   ENSP00000388322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,061,486 - 132,105,265 (-)Ensembl
RefSeq Acc Id: ENST00000434736   ⟹   ENSP00000407107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,069,675 - 132,111,159 (-)Ensembl
RefSeq Acc Id: ENST00000473291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,063,785 - 132,081,104 (-)Ensembl
RefSeq Acc Id: ENST00000673615   ⟹   ENSP00000500443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,063,785 - 132,111,159 (-)Ensembl
RefSeq Acc Id: NM_001145095   ⟹   NP_001138567
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,061,486 - 132,111,157 (-)NCBI
GRCh378133,073,733 - 133,117,512 (-)RGD
Celera8129,249,437 - 129,293,200 (-)RGD
HuRef8128,391,286 - 128,435,044 (-)ENTREZGENE
CHM1_18133,114,543 - 133,158,318 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001138567 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein C9JL84 (Get FASTA)   NCBI Sequence Viewer  
  EAW92139 (Get FASTA)   NCBI Sequence Viewer  
  EAW92140 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001138567   ⟸   NM_001145095
- Peptide Label: precursor
- UniProtKB: C9JL84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000500443   ⟸   ENST00000673615
RefSeq Acc Id: ENSP00000388322   ⟸   ENST00000414222
RefSeq Acc Id: ENSP00000407107   ⟸   ENST00000434736


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 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
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 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 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 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 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3 copy number gain See cases [RCV000133767] Chr8:131770098..132203964 [GRCh38]
Chr8:132782345..133216211 [GRCh37]
Chr8:132851527..133285393 [NCBI36]
Chr8:8q24.22
uncertain significance
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 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely 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 8q24.13-24.3(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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
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 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 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 8q24.22(chr8:132005210-133698781)x3 copy number gain See cases [RCV000515570] Chr8:132005210..133698781 [GRCh37]
Chr8:8q24.22
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 8q24.21-24.22(chr8:128295596-133200773)x1 copy number loss See cases [RCV000448960] Chr8:128295596..133200773 [GRCh37]
Chr8:8q24.21-24.22
likely pathogenic
GRCh37/hg19 8q24.22(chr8:132812614-133245950)x3 copy number gain See cases [RCV000448346] Chr8:132812614..133245950 [GRCh37]
Chr8:8q24.22
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 8q24.21-24.22(chr8:131025817-133947836)x3 copy number gain See cases [RCV000511900] Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22
uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
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 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
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 8q24.12-24.3(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 8q24.22(chr8:132822037-133262048)x3 copy number gain not provided [RCV000747858] Chr8:132822037..133262048 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
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
GRCh37/hg19 8q24.22(chr8:132588071-133169753)x3 copy number gain not provided [RCV000848381] Chr8:132588071..133169753 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
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 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:132812544-133251797)x3 copy number gain not provided [RCV000846636] Chr8:132812544..133251797 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22
uncertain significance
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 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4904 AgrOrtholog
COSMIC HHLA1 COSMIC
Ensembl Genes ENSG00000132297 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000388322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000407107 UniProtKB/TrEMBL
  ENSP00000500443 UniProtKB/TrEMBL
Ensembl Transcript ENST00000414222 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000434736 UniProtKB/TrEMBL
  ENST00000673615 UniProtKB/TrEMBL
GTEx ENSG00000132297 GTEx
HGNC ID HGNC:4904 ENTREZGENE
Human Proteome Map HHLA1 Human Proteome Map
InterPro HHLA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10086 UniProtKB/Swiss-Prot
NCBI Gene 10086 ENTREZGENE
OMIM 604109 OMIM
PANTHER PTHR15299 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29277 PharmGKB
UniProt A0A5F9ZHM0_HUMAN UniProtKB/TrEMBL
  C9JL84 ENTREZGENE
  C9JY47_HUMAN UniProtKB/TrEMBL
  HHLA1_HUMAN UniProtKB/Swiss-Prot