RLN2 (relaxin 2) - Rat Genome Database

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Gene: RLN2 (relaxin 2) Homo sapiens
Analyze
Symbol: RLN2
Name: relaxin 2
RGD ID: 1348053
HGNC Page HGNC:10027
Description: Predicted to enable hormone activity. Involved in positive regulation of angiogenesis and positive regulation of gene expression. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA12D24.1.1; bA12D24.1.2; H2; H2-preprorelaxin; H2-RLX; prorelaxin H2; relaxin H2; relaxin, ovarian, of pregnancy; RLXH2
RGD Orthologs
Bonobo
Dog
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
GRCh3895,299,864 - 5,339,326 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl95,299,864 - 5,304,716 (-)EnsemblGRCh38hg38GRCh38
GRCh3795,299,864 - 5,304,716 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,289,868 - 5,294,580 (-)NCBINCBI36Build 36hg18NCBI36
Build 3495,289,867 - 5,294,580NCBI
Celera95,225,495 - 5,230,205 (-)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef95,255,310 - 5,260,104 (-)NCBIHuRef
CHM1_195,300,035 - 5,304,782 (-)NCBICHM1_1
T2T-CHM13v2.095,304,955 - 5,344,419 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1572287   PMID:1656049   PMID:2005217   PMID:2040595   PMID:2076464   PMID:6548702   PMID:6548703   PMID:7829601   PMID:7916973   PMID:7958621   PMID:8735594   PMID:9730618  
PMID:10601981   PMID:10750025   PMID:11313185   PMID:11329013   PMID:11459784   PMID:12036966   PMID:12198562   PMID:12477932   PMID:12506116   PMID:12590922   PMID:12614168   PMID:15070778  
PMID:15164053   PMID:15489334   PMID:15649866   PMID:15956696   PMID:15956711   PMID:15956719   PMID:15956727   PMID:15956728   PMID:15956746   PMID:15967869   PMID:16049981   PMID:16569707  
PMID:16580233   PMID:16877360   PMID:17363522   PMID:17616862   PMID:17653089   PMID:18236174   PMID:18345514   PMID:18434306   PMID:18474430   PMID:18577758   PMID:18723073   PMID:19073841  
PMID:19289144   PMID:19416221   PMID:20023247   PMID:20043231   PMID:20191607   PMID:20237496   PMID:20858209   PMID:21235507   PMID:21493587   PMID:21737831   PMID:21789713   PMID:21878627  
PMID:22141456   PMID:22152813   PMID:22226177   PMID:22541981   PMID:22698078   PMID:22737225   PMID:22855207   PMID:22949764   PMID:23024363   PMID:23081913   PMID:23111608   PMID:23141816  
PMID:23613637   PMID:23661524   PMID:23661525   PMID:23668059   PMID:23727041   PMID:23994775   PMID:24584737   PMID:24641548   PMID:25298524   PMID:25322737   PMID:25339476   PMID:25547165  
PMID:25685807   PMID:25786395   PMID:26229955   PMID:26272327   PMID:26331289   PMID:26424011   PMID:26493539   PMID:26499396   PMID:26746861   PMID:27088579   PMID:27119161   PMID:27245459  
PMID:27488261   PMID:28613403   PMID:28664310   PMID:29060928   PMID:29133069   PMID:29180109   PMID:29513121   PMID:29565035   PMID:29695398   PMID:29716428   PMID:30918325   PMID:31007042  
PMID:32024951   PMID:32360533   PMID:33961781   PMID:34454945   PMID:35657397   PMID:36947362   PMID:37142649  


Genomics

Comparative Map Data
RLN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3895,299,864 - 5,339,326 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl95,299,864 - 5,304,716 (-)EnsemblGRCh38hg38GRCh38
GRCh3795,299,864 - 5,304,716 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,289,868 - 5,294,580 (-)NCBINCBI36Build 36hg18NCBI36
Build 3495,289,867 - 5,294,580NCBI
Celera95,225,495 - 5,230,205 (-)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef95,255,310 - 5,260,104 (-)NCBIHuRef
CHM1_195,300,035 - 5,304,782 (-)NCBICHM1_1
T2T-CHM13v2.095,304,955 - 5,344,419 (-)NCBIT2T-CHM13v2.0
RLN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211119,221,186 - 119,254,178 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19119,227,131 - 119,260,125 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v095,138,882 - 5,167,037 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.195,324,368 - 5,330,184 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl95,324,368 - 5,329,081 (-)Ensemblpanpan1.1panPan2
RLN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,500,682 - 93,505,098 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,500,682 - 93,505,098 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha193,908,885 - 93,913,301 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0194,054,224 - 94,066,013 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl194,054,123 - 94,066,884 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1193,686,709 - 93,691,124 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0193,411,281 - 93,415,697 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0194,175,653 - 94,180,069 (-)NCBIUU_Cfam_GSD_1.0
RLN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11216,763,546 - 216,769,802 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21242,497,113 - 242,503,501 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RLN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11274,184,516 - 74,191,364 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1274,186,116 - 74,190,540 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603862,577,681 - 62,582,677 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rln2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247369,886,148 - 9,891,191 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247369,886,285 - 9,891,887 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RLN2
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.1(chr9:4970093-5483250)x1 copy number loss See cases [RCV000051142] Chr9:4970093..5483250 [GRCh38]
Chr9:4970093..5483250 [GRCh37]
Chr9:4960093..5473250 [NCBI36]
Chr9:9p24.1		 uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1		 pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 copy number gain See cases [RCV000137339] Chr9:204104..5426099 [GRCh38]
Chr9:204104..5426099 [GRCh37]
Chr9:194104..5416099 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.1(chr9:4768744-5426099)x3 copy number gain See cases [RCV000137871] Chr9:4768744..5426099 [GRCh38]
Chr9:4768744..5426099 [GRCh37]
Chr9:4758744..5416099 [NCBI36]
Chr9:9p24.1		 likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.1(chr9:5047233-5311643)x1 copy number loss See cases [RCV000142362] Chr9:5047233..5311643 [GRCh38]
Chr9:5047233..5311643 [GRCh37]
Chr9:5037233..5301643 [NCBI36]
Chr9:9p24.1		 uncertain significance
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:4287179-5579213)x3 copy number gain Premature ovarian failure [RCV000225326] Chr9:4287179..5579213 [GRCh37]
Chr9:9p24.2-24.1		 benign
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) copy number loss Chromosome 9p deletion syndrome [RCV002280769] Chr9:4992582..19322101 [GRCh37]
Chr9:9p24.1-22.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5304531-5335597)x1 copy number loss See cases [RCV000447443] Chr9:5304531..5335597 [GRCh37]
Chr9:9p24.1		 benign|likely benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.1(chr9:5304531-5335597)x3 copy number gain See cases [RCV000445919] Chr9:5304531..5335597 [GRCh37]
Chr9:9p24.1		 benign|likely benign
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
NM_006911.3(RLN1):c.339_*28427del deletion Gestational diabetes mellitus uncontrolled [RCV000161560] Chr9:5306824..5335470 [GRCh38]
Chr9:5306824..5335470 [GRCh37]
Chr9:9p24.1		 not provided
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5299385-5348305)x3 copy number gain not provided [RCV000748139] Chr9:5299385..5348305 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_006911.4(RLN1):c.401G>A (p.Arg134His) single nucleotide variant not specified [RCV004284655] Chr9:5335408 [GRCh38]
Chr9:5335408 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_134441.3(RLN2):c.388A>G (p.Lys130Glu) single nucleotide variant not provided [RCV000888672] Chr9:5300268 [GRCh38]
Chr9:5300268 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:4613939-6144065)x1 copy number loss not provided [RCV001006191] Chr9:4613939..6144065 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_006911.4(RLN1):c.219A>C (p.Val73=) single nucleotide variant not provided [RCV000890968] Chr9:5335590 [GRCh38]
Chr9:5335590 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NC_000009.11:g.(?_2029023)_(5300444_?)dup duplication not provided [RCV001346810] Chr9:2029023..5300444 [GRCh37]
Chr9:9p24.3-24.1		 uncertain significance
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) copy number loss not specified [RCV002053808] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
Single allele duplication not provided [RCV002266756] Chr9:4954044..5872261 [GRCh38]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_134441.3(RLN2):c.340C>G (p.Gln114Glu) single nucleotide variant not specified [RCV004319099] Chr9:5300316 [GRCh38]
Chr9:5300316 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 copy number gain not provided [RCV002472665] Chr9:203862..5958840 [GRCh37]
Chr9:9p24.3-24.1		 likely pathogenic
NM_006911.4(RLN1):c.370C>G (p.Leu124Val) single nucleotide variant not specified [RCV004215436] Chr9:5335439 [GRCh38]
Chr9:5335439 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.482G>C (p.Arg161Thr) single nucleotide variant not specified [RCV004087960] Chr9:5300174 [GRCh38]
Chr9:5300174 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.18T>G (p.Phe6Leu) single nucleotide variant not specified [RCV004197214] Chr9:5304563 [GRCh38]
Chr9:5304563 [GRCh37]
Chr9:9p24.1		 likely benign
NM_134441.3(RLN2):c.197C>G (p.Pro66Arg) single nucleotide variant not specified [RCV004200425] Chr9:5304384 [GRCh38]
Chr9:5304384 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:4604171-5491331)x3 copy number gain not provided [RCV002475842] Chr9:4604171..5491331 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.74A>C (p.Asp25Ala) single nucleotide variant not specified [RCV004203079] Chr9:5304507 [GRCh38]
Chr9:5304507 [GRCh37]
Chr9:9p24.1		 likely benign
NM_134441.3(RLN2):c.76T>A (p.Ser26Thr) single nucleotide variant not specified [RCV004203080] Chr9:5304505 [GRCh38]
Chr9:5304505 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.187C>G (p.Pro63Ala) single nucleotide variant not specified [RCV004145754] Chr9:5304394 [GRCh38]
Chr9:5304394 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.433C>T (p.Pro145Ser) single nucleotide variant not specified [RCV004159809] Chr9:5300223 [GRCh38]
Chr9:5300223 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.271G>C (p.Val91Leu) single nucleotide variant not specified [RCV004242317] Chr9:5300385 [GRCh38]
Chr9:5300385 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_006911.4(RLN1):c.467A>C (p.His156Pro) single nucleotide variant not specified [RCV004205571] Chr9:5335342 [GRCh38]
Chr9:5335342 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.242C>T (p.Thr81Ile) single nucleotide variant not specified [RCV004089860] Chr9:5300414 [GRCh38]
Chr9:5300414 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.473G>C (p.Arg158Pro) single nucleotide variant not specified [RCV004087959] Chr9:5300183 [GRCh38]
Chr9:5300183 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_006911.4(RLN1):c.526T>C (p.Cys176Arg) single nucleotide variant not specified [RCV004279070] Chr9:5335283 [GRCh38]
Chr9:5335283 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.119T>C (p.Val40Ala) single nucleotide variant not specified [RCV004337370] Chr9:5304462 [GRCh38]
Chr9:5304462 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:5174638-5722779)x3 copy number gain not provided [RCV003484767] Chr9:5174638..5722779 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_006911.4(RLN1):c.416A>G (p.Glu139Gly) single nucleotide variant not specified [RCV004454101] Chr9:5335393 [GRCh38]
Chr9:5335393 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.219G>A (p.Val73=) single nucleotide variant not specified [RCV004454108] Chr9:5300437 [GRCh38]
Chr9:5300437 [GRCh37]
Chr9:9p24.1		 likely benign
NM_006911.4(RLN1):c.255T>G (p.Ile85Met) single nucleotide variant not specified [RCV004454099] Chr9:5335554 [GRCh38]
Chr9:5335554 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.233A>G (p.Asn78Ser) single nucleotide variant not specified [RCV004454109] Chr9:5300423 [GRCh38]
Chr9:5300423 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.161A>T (p.Lys54Ile) single nucleotide variant not specified [RCV004454107] Chr9:5304420 [GRCh38]
Chr9:5304420 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_006911.4(RLN1):c.463A>G (p.Thr155Ala) single nucleotide variant not specified [RCV004454102] Chr9:5335346 [GRCh38]
Chr9:5335346 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.480G>C (p.Lys160Asn) single nucleotide variant not specified [RCV004454112] Chr9:5300176 [GRCh38]
Chr9:5300176 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_134441.3(RLN2):c.425A>G (p.Asp142Gly) single nucleotide variant not specified [RCV004454111] Chr9:5300231 [GRCh38]
Chr9:5300231 [GRCh37]
Chr9:9p24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:377
Count of miRNA genes:138
Interacting mature miRNAs:142
Transcripts:ENST00000308420, ENST00000381627, ENST00000416837
Prediction methods:Microtar, 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.

Markers in Region
RLN1_1534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,334,771 - 5,335,584UniSTSGRCh37
GRCh3795,299,540 - 5,300,431UniSTSGRCh37
Build 3695,289,540 - 5,290,431RGDNCBI36
Celera95,225,167 - 5,226,058RGD
Celera95,260,395 - 5,261,208UniSTS
HuRef95,290,259 - 5,291,072UniSTS
HuRef95,254,986 - 5,255,877UniSTS


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 2 1 13 21 1 37 9
Low 208 60 486 29 843 25 319 23 440 234 775 582 10 23 87 3
Below cutoff 1438 1901 757 331 771 184 2485 1176 2643 157 455 878 150 869 1481 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001329191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_134441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A06925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A17315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA935560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF057706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI033912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG206251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX094853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381627   ⟹   ENSP00000371040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,299,864 - 5,304,716 (-)Ensembl
RefSeq Acc Id: ENST00000416837   ⟹   ENSP00000399616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,299,876 - 5,304,432 (-)Ensembl
RefSeq Acc Id: NM_001329191   ⟹   NP_001316120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,299,864 - 5,304,228 (-)NCBI
T2T-CHM13v2.095,304,955 - 5,309,319 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005059   ⟹   NP_005050
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,299,864 - 5,304,716 (-)NCBI
GRCh3795,299,864 - 5,304,611 (-)NCBI
Build 3695,289,868 - 5,294,580 (-)NCBI Archive
HuRef95,255,310 - 5,260,104 (-)NCBI
CHM1_195,300,035 - 5,304,782 (-)NCBI
T2T-CHM13v2.095,304,955 - 5,309,807 (-)NCBI
Sequence:
RefSeq Acc Id: NM_134441   ⟹   NP_604390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,299,864 - 5,304,716 (-)NCBI
GRCh3795,299,864 - 5,304,611 (-)NCBI
Build 3695,289,868 - 5,294,580 (-)NCBI Archive
HuRef95,255,310 - 5,260,104 (-)NCBI
CHM1_195,300,035 - 5,304,782 (-)NCBI
T2T-CHM13v2.095,304,955 - 5,309,807 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423707   ⟹   XP_047279663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,299,864 - 5,339,326 (-)NCBI
RefSeq Acc Id: XM_047423708   ⟹   XP_047279664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,299,864 - 5,304,265 (-)NCBI
RefSeq Acc Id: XM_047423709   ⟹   XP_047279665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,299,864 - 5,339,326 (-)NCBI
RefSeq Acc Id: XM_054363496   ⟹   XP_054219471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,304,955 - 5,344,419 (-)NCBI
RefSeq Acc Id: XM_054363497   ⟹   XP_054219472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,304,955 - 5,340,640 (-)NCBI
RefSeq Acc Id: XM_054363498   ⟹   XP_054219473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,304,955 - 5,340,641 (-)NCBI
RefSeq Acc Id: XM_054363499   ⟹   XP_054219474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,304,955 - 5,340,646 (-)NCBI
RefSeq Acc Id: XM_054363500   ⟹   XP_054219475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,304,955 - 5,344,419 (-)NCBI
RefSeq Acc Id: XM_054363501   ⟹   XP_054219476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,304,955 - 5,309,356 (-)NCBI
RefSeq Acc Id: XM_054363502   ⟹   XP_054219477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,304,955 - 5,344,419 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_604390   ⟸   NM_134441
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q9UCX3 (UniProtKB/Swiss-Prot),   A0AVM0 (UniProtKB/Swiss-Prot),   Q9UQJ2 (UniProtKB/Swiss-Prot),   P04090 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005050   ⟸   NM_005059
- Peptide Label: isoform 2 precursor
- UniProtKB: P04090 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316120   ⟸   NM_001329191
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000399616   ⟸   ENST00000416837
RefSeq Acc Id: ENSP00000371040   ⟸   ENST00000381627
RefSeq Acc Id: XP_047279663   ⟸   XM_047423707
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279665   ⟸   XM_047423709
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279664   ⟸   XM_047423708
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219475   ⟸   XM_054363500
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219477   ⟸   XM_054363502
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219471   ⟸   XM_054363496
- Peptide Label: isoform X3
- UniProtKB: Q9UCX3 (UniProtKB/Swiss-Prot),   P04090 (UniProtKB/Swiss-Prot),   A0AVM0 (UniProtKB/Swiss-Prot),   Q9UQJ2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219474   ⟸   XM_054363499
- Peptide Label: isoform X3
- UniProtKB: Q9UCX3 (UniProtKB/Swiss-Prot),   P04090 (UniProtKB/Swiss-Prot),   A0AVM0 (UniProtKB/Swiss-Prot),   Q9UQJ2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219473   ⟸   XM_054363498
- Peptide Label: isoform X3
- UniProtKB: Q9UCX3 (UniProtKB/Swiss-Prot),   P04090 (UniProtKB/Swiss-Prot),   A0AVM0 (UniProtKB/Swiss-Prot),   Q9UQJ2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219472   ⟸   XM_054363497
- Peptide Label: isoform X3
- UniProtKB: Q9UCX3 (UniProtKB/Swiss-Prot),   P04090 (UniProtKB/Swiss-Prot),   A0AVM0 (UniProtKB/Swiss-Prot),   Q9UQJ2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219476   ⟸   XM_054363501
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04090-F1-model_v2 AlphaFold P04090 1-185 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10027 AgrOrtholog
COSMIC RLN2 COSMIC
Ensembl Genes ENSG00000107014 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381627 ENTREZGENE
  ENST00000381627.4 UniProtKB/Swiss-Prot
  ENST00000416837.1 UniProtKB/TrEMBL
Gene3D-CATH Insulin-like UniProtKB/Swiss-Prot
GTEx ENSG00000107014 GTEx
HGNC ID HGNC:10027 ENTREZGENE
Human Proteome Map RLN2 Human Proteome Map
InterPro Insulin-like UniProtKB/Swiss-Prot
  Insulin-like_sf UniProtKB/Swiss-Prot
  Insulin_CS UniProtKB/Swiss-Prot
  Insulin_family UniProtKB/Swiss-Prot
  Relaxin UniProtKB/Swiss-Prot
KEGG Report hsa:6019 UniProtKB/Swiss-Prot
NCBI Gene 6019 ENTREZGENE
OMIM 179740 OMIM
PANTHER PRORELAXIN H2 UniProtKB/Swiss-Prot
  RELAXIN UniProtKB/Swiss-Prot
Pfam Insulin UniProtKB/Swiss-Prot
PharmGKB PA34400 PharmGKB
PRINTS INSULINFAMLY UniProtKB/Swiss-Prot
  RELAXIN UniProtKB/Swiss-Prot
PROSITE INSULIN UniProtKB/Swiss-Prot
SMART IlGF UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56994 UniProtKB/Swiss-Prot
UniProt A0AVM0 ENTREZGENE
  H0Y5M9_HUMAN UniProtKB/TrEMBL
  P04090 ENTREZGENE
  Q9UCX3 ENTREZGENE
  Q9UQJ2 ENTREZGENE
  REL2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0AVM0 UniProtKB/Swiss-Prot
  Q99936 UniProtKB/Swiss-Prot
  Q9UCX3 UniProtKB/Swiss-Prot
  Q9UQJ2 UniProtKB/Swiss-Prot