HEMGN (hemogen) - Rat Genome Database

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Gene: HEMGN (hemogen) Homo sapiens
Analyze
Symbol: HEMGN
Name: hemogen
RGD ID: 1351335
HGNC Page HGNC:17509
Description: Predicted to be involved in regulation of osteoblast differentiation. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CT155; EDAG; EDAG-1; erythroid differentiation-associated gene protein; hemopoietic gene protein; NDR; negative differentiation regulator protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38997,926,791 - 97,944,852 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl997,926,791 - 97,944,856 (-)EnsemblGRCh38hg38GRCh38
GRCh379100,689,073 - 100,707,134 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36999,728,894 - 99,746,955 (-)NCBINCBI36Build 36hg18NCBI36
Build 34997,768,627 - 97,780,081NCBI
Celera971,203,325 - 71,221,386 (-)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef970,290,066 - 70,308,233 (-)NCBIHuRef
CHM1_19100,835,598 - 100,853,722 (-)NCBICHM1_1
T2T-CHM13v2.09110,098,729 - 110,116,790 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleoplasm  (IBA,IDA,IEA)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11404085   PMID:11483580   PMID:12477932   PMID:14648837   PMID:14730214   PMID:15164053   PMID:15332117   PMID:15489334   PMID:15920494   PMID:16344560   PMID:16437149   PMID:17671716  
PMID:18599389   PMID:19197348   PMID:19779022   PMID:20350937   PMID:20564185   PMID:21873635   PMID:21988832   PMID:22712502   PMID:24412244   PMID:24740910   PMID:27261581   PMID:27545878  
PMID:27579896   PMID:29324880   PMID:31452512   PMID:32296183   PMID:32350948   PMID:33203523   PMID:33451334   PMID:36563642  


Genomics

Comparative Map Data
HEMGN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38997,926,791 - 97,944,852 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl997,926,791 - 97,944,856 (-)EnsemblGRCh38hg38GRCh38
GRCh379100,689,073 - 100,707,134 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36999,728,894 - 99,746,955 (-)NCBINCBI36Build 36hg18NCBI36
Build 34997,768,627 - 97,780,081NCBI
Celera971,203,325 - 71,221,386 (-)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef970,290,066 - 70,308,233 (-)NCBIHuRef
CHM1_19100,835,598 - 100,853,722 (-)NCBICHM1_1
T2T-CHM13v2.09110,098,729 - 110,116,790 (-)NCBIT2T-CHM13v2.0
Hemgn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39446,393,989 - 46,404,183 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl446,393,989 - 46,413,506 (-)EnsemblGRCm39 Ensembl
GRCm38446,393,989 - 46,404,183 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl446,393,989 - 46,413,506 (-)EnsemblGRCm38mm10GRCm38
MGSCv37446,406,861 - 46,417,055 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36446,415,089 - 46,425,283 (-)NCBIMGSCv36mm8
Celera446,416,000 - 46,426,254 (-)NCBICelera
Cytogenetic Map4B1NCBI
cM Map424.73NCBI
Hemgn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8565,475,228 - 65,495,384 (-)NCBIGRCr8
mRatBN7.2560,679,633 - 60,698,597 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl560,679,633 - 60,698,669 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx562,651,671 - 62,671,114 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0564,471,170 - 64,490,614 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0564,440,444 - 64,459,889 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0562,004,271 - 62,025,075 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl562,005,071 - 62,025,152 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0566,517,085 - 66,538,953 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4562,955,054 - 62,965,081 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1562,955,232 - 62,965,260 (-)NCBI
Celera559,239,034 - 59,250,558 (-)NCBICelera
Cytogenetic Map5q22NCBI
Hemgn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541927,523,730 - 27,547,571 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541927,524,008 - 27,548,375 (+)NCBIChiLan1.0ChiLan1.0
HEMGN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21141,461,290 - 41,532,037 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1941,462,680 - 41,534,414 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0969,016,921 - 69,078,632 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1997,137,560 - 97,198,719 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl997,137,560 - 97,158,420 (-)Ensemblpanpan1.1panPan2
HEMGN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11155,208,038 - 55,223,487 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1155,208,327 - 55,219,643 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1153,642,056 - 53,657,183 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01156,320,400 - 56,335,526 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11154,816,578 - 54,831,686 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01154,847,065 - 54,862,182 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01155,543,633 - 55,558,755 (-)NCBIUU_Cfam_GSD_1.0
Hemgn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947170,143,343 - 170,150,955 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365246,690,969 - 6,699,307 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEMGN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1239,768,176 - 239,842,595 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11239,790,503 - 239,834,568 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21267,908,092 - 267,912,393 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEMGN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11241,466,877 - 41,485,199 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1241,473,501 - 41,485,182 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603838,525,074 - 38,536,857 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hemgn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248252,888,131 - 2,900,752 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248252,879,160 - 2,899,636 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HEMGN
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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-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-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 9q22.31-22.33(chr9:92561720-98122580)x3 copy number gain See cases [RCV000053773] Chr9:92561720..98122580 [GRCh38]
Chr9:95324002..100884862 [GRCh37]
Chr9:94363823..99924683 [NCBI36]
Chr9:9q22.31-22.33		 pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2		 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 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
NM_018437.4(HEMGN):c.355C>T (p.Pro119Ser) single nucleotide variant Malignant melanoma [RCV000068762] Chr9:97931040 [GRCh38]
Chr9:100693322 [GRCh37]
Chr9:99733143 [NCBI36]
Chr9:9q22.33		 not provided
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 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3		 pathogenic
GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1 copy number loss See cases [RCV000135303] Chr9:94713892..98121186 [GRCh38]
Chr9:97476174..100883468 [GRCh37]
Chr9:96515995..99923289 [NCBI36]
Chr9:9q22.32-22.33		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
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 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
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 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 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-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
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-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-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-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.33(chr9:100625192-102129138)x1 copy number loss See cases [RCV000510500] Chr9:100625192..102129138 [GRCh37]
Chr9:9q22.33		 pathogenic
GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3 copy number gain See cases [RCV000510672] Chr9:97553176..102919383 [GRCh37]
Chr9:9q22.32-31.1		 likely pathogenic
NM_197978.3(HEMGN):c.1114C>A (p.Gln372Lys) single nucleotide variant not specified [RCV004301396] Chr9:97930281 [GRCh38]
Chr9:100692563 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
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 9q22.33(chr9:100665865-100700237)x3 copy number gain not provided [RCV000748539] Chr9:100665865..100700237 [GRCh37]
Chr9:9q22.33		 benign
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-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 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_197978.3(HEMGN):c.1029C>A (p.Ile343=) single nucleotide variant not provided [RCV000958614] Chr9:97930366 [GRCh38]
Chr9:100692648 [GRCh37]
Chr9:9q22.33		 benign
NM_197978.3(HEMGN):c.1232A>G (p.Glu411Gly) single nucleotide variant not specified [RCV004296032] Chr9:97930163 [GRCh38]
Chr9:100692445 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.1347T>C (p.Tyr449=) single nucleotide variant not provided [RCV000953762] Chr9:97930048 [GRCh38]
Chr9:100692330 [GRCh37]
Chr9:9q22.33		 benign
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2		 pathogenic
NC_000009.12:g.(?_97428446)_(98796511_?)dup duplication Epileptic encephalopathy [RCV001033232] Chr9:100190728..101558793 [GRCh37]
Chr9:9q22.33		 uncertain significance
Single allele deletion Intellectual disability [RCV001293373] Chr9:97834573..107199088 [GRCh37]
Chr9:9q22.32-31.1		 pathogenic
NC_000009.11:g.(?_100190728)_(101558793_?)dup duplication Epileptic encephalopathy [RCV001308947] Chr9:100190728..101558793 [GRCh37]
Chr9:9q22.33		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely 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 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q22.33(chr9:100663411-100722993)x1 copy number loss not provided [RCV001827607] Chr9:100663411..100722993 [GRCh37]
Chr9:9q22.33		 likely benign
NC_000009.11:g.(?_100190748)_(103062956_?)del deletion Nephronophthisis [RCV001959180] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1		 pathogenic
NC_000009.11:g.(?_100190748)_(103062956_?)dup duplication ALG2-congenital disorder of glycosylation [RCV003113550]|Familial thoracic aortic aneurysm and aortic dissection [RCV003113551] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1		 uncertain significance
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1		 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 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_197978.3(HEMGN):c.950A>C (p.Glu317Ala) single nucleotide variant not specified [RCV004160215] Chr9:97930445 [GRCh38]
Chr9:100692727 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.855T>G (p.Asn285Lys) single nucleotide variant not specified [RCV004134267] Chr9:97930540 [GRCh38]
Chr9:100692822 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.1351T>C (p.Phe451Leu) single nucleotide variant not specified [RCV004149546] Chr9:97930044 [GRCh38]
Chr9:100692326 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.559T>C (p.Ser187Pro) single nucleotide variant not specified [RCV004102290] Chr9:97930836 [GRCh38]
Chr9:100693118 [GRCh37]
Chr9:9q22.33		 likely benign
NM_197978.3(HEMGN):c.1009G>A (p.Ala337Thr) single nucleotide variant not specified [RCV004243742] Chr9:97930386 [GRCh38]
Chr9:100692668 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.371C>T (p.Pro124Leu) single nucleotide variant not specified [RCV004124407] Chr9:97931024 [GRCh38]
Chr9:100693306 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.903A>G (p.Ile301Met) single nucleotide variant not specified [RCV004157407] Chr9:97930492 [GRCh38]
Chr9:100692774 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.946C>G (p.Gln316Glu) single nucleotide variant not specified [RCV004094332] Chr9:97930449 [GRCh38]
Chr9:100692731 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.332C>G (p.Pro111Arg) single nucleotide variant not specified [RCV004186884] Chr9:97931063 [GRCh38]
Chr9:100693345 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.400T>C (p.Ser134Pro) single nucleotide variant not specified [RCV004217327] Chr9:97930995 [GRCh38]
Chr9:100693277 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.217C>G (p.Arg73Gly) single nucleotide variant not specified [RCV004331771] Chr9:97931178 [GRCh38]
Chr9:100693460 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.1352T>C (p.Phe451Ser) single nucleotide variant not specified [RCV004248866] Chr9:97930043 [GRCh38]
Chr9:100692325 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.304G>A (p.Ala102Thr) single nucleotide variant not specified [RCV004309055] Chr9:97931091 [GRCh38]
Chr9:100693373 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.1388C>G (p.Pro463Arg) single nucleotide variant not specified [RCV004307197] Chr9:97927451 [GRCh38]
Chr9:100689733 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.639C>G (p.Asp213Glu) single nucleotide variant not specified [RCV004352602] Chr9:97930756 [GRCh38]
Chr9:100693038 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.1081C>A (p.Pro361Thr) single nucleotide variant not specified [RCV004363788] Chr9:97930314 [GRCh38]
Chr9:100692596 [GRCh37]
Chr9:9q22.33		 uncertain significance
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2		 pathogenic
NM_197978.3(HEMGN):c.10G>A (p.Gly4Arg) single nucleotide variant not specified [RCV004404063] Chr9:97938127 [GRCh38]
Chr9:100700409 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.1109C>T (p.Thr370Met) single nucleotide variant not specified [RCV004404064] Chr9:97930286 [GRCh38]
Chr9:100692568 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.1154A>G (p.Tyr385Cys) single nucleotide variant not specified [RCV004404065] Chr9:97930241 [GRCh38]
Chr9:100692523 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.223G>T (p.Gly75Cys) single nucleotide variant not specified [RCV004404066] Chr9:97931172 [GRCh38]
Chr9:100693454 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.392A>C (p.Glu131Ala) single nucleotide variant not specified [RCV004404067] Chr9:97931003 [GRCh38]
Chr9:100693285 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.521C>A (p.Pro174His) single nucleotide variant not specified [RCV004404068] Chr9:97930874 [GRCh38]
Chr9:100693156 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_197978.3(HEMGN):c.836C>A (p.Ala279Glu) single nucleotide variant not specified [RCV004404069] Chr9:97930559 [GRCh38]
Chr9:100692841 [GRCh37]
Chr9:9q22.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:159
Count of miRNA genes:136
Interacting mature miRNAs:143
Transcripts:ENST00000259456
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-33415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,692,333 - 100,692,468UniSTSGRCh37
Build 36999,732,154 - 99,732,289RGDNCBI36
Celera971,206,585 - 71,206,720RGD
Cytogenetic Map9q22.33UniSTS
HuRef970,293,324 - 70,293,459UniSTS
TNG Radiation Hybrid Map937349.0UniSTS
Stanford-G3 RH Map93340.0UniSTS
GeneMap99-GB4 RH Map9314.67UniSTS
Whitehead-RH Map9356.3UniSTS
NCBI RH Map9822.7UniSTS
GeneMap99-G3 RH Map93238.0UniSTS
RH16211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,691,452 - 100,691,588UniSTSGRCh37
Build 36999,731,273 - 99,731,409RGDNCBI36
Celera971,205,704 - 71,205,840RGD
Cytogenetic Map9q22.33UniSTS
HuRef970,292,443 - 70,292,579UniSTS
GeneMap99-GB4 RH Map9314.67UniSTS
SHGC-34470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379100,691,409 - 100,691,533UniSTSGRCh37
Build 36999,731,230 - 99,731,354RGDNCBI36
Celera971,205,661 - 71,205,785RGD
Cytogenetic Map9q22.33UniSTS
HuRef970,292,400 - 70,292,524UniSTS
TNG Radiation Hybrid Map937345.0UniSTS
GeneMap99-GB4 RH Map9316.63UniSTS
Whitehead-RH Map9358.2UniSTS


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 3 3 3
Medium 1 233 20 12 297 12 2 7 10 357 13 1
Low 49 586 199 38 898 38 47 34 97 28 63 573 77 31 2
Below cutoff 1363 1453 1146 350 331 242 2355 1265 2771 182 568 726 110 880 1540

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_018437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_197978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF116617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF228713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF306681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF306682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF306683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF322875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL499604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY244805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY255672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG571634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG717036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA485094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY026328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000259456   ⟹   ENSP00000259456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl997,926,791 - 97,944,856 (-)Ensembl
RefSeq Acc Id: ENST00000616898   ⟹   ENSP00000480020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl997,926,791 - 97,938,172 (-)Ensembl
RefSeq Acc Id: NM_018437   ⟹   NP_060907
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,926,791 - 97,944,852 (-)NCBI
GRCh379100,689,073 - 100,707,197 (-)NCBI
Build 36999,728,894 - 99,746,955 (-)NCBI Archive
HuRef970,290,066 - 70,308,233 (-)NCBI
CHM1_19100,835,598 - 100,853,722 (-)NCBI
T2T-CHM13v2.09110,098,729 - 110,116,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_197978   ⟹   NP_932095
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,926,791 - 97,938,172 (-)NCBI
GRCh379100,689,073 - 100,707,197 (-)NCBI
Build 36999,728,894 - 99,740,347 (-)NCBI Archive
HuRef970,290,066 - 70,308,233 (-)NCBI
CHM1_19100,835,598 - 100,847,200 (-)NCBI
T2T-CHM13v2.09110,098,729 - 110,110,110 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054363236   ⟹   XP_054219211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09110,098,729 - 110,112,792 (-)NCBI
RefSeq Acc Id: XM_054363237   ⟹   XP_054219212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09110,098,729 - 110,112,784 (-)NCBI
RefSeq Acc Id: XM_054363238   ⟹   XP_054219213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09110,098,729 - 110,116,768 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_060907   ⟸   NM_018437
- UniProtKB: Q86XY5 (UniProtKB/Swiss-Prot),   Q6XAR3 (UniProtKB/Swiss-Prot),   Q9NPC0 (UniProtKB/Swiss-Prot),   Q9BXL5 (UniProtKB/Swiss-Prot),   A8K8S6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_932095   ⟸   NM_197978
- UniProtKB: Q86XY5 (UniProtKB/Swiss-Prot),   Q6XAR3 (UniProtKB/Swiss-Prot),   Q9NPC0 (UniProtKB/Swiss-Prot),   Q9BXL5 (UniProtKB/Swiss-Prot),   A8K8S6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000259456   ⟸   ENST00000259456
RefSeq Acc Id: ENSP00000480020   ⟸   ENST00000616898
RefSeq Acc Id: XP_054219213   ⟸   XM_054363238
- Peptide Label: isoform X1
- UniProtKB: Q9BXL5 (UniProtKB/Swiss-Prot),   Q86XY5 (UniProtKB/Swiss-Prot),   Q6XAR3 (UniProtKB/Swiss-Prot),   Q9NPC0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219211   ⟸   XM_054363236
- Peptide Label: isoform X1
- UniProtKB: Q9BXL5 (UniProtKB/Swiss-Prot),   Q86XY5 (UniProtKB/Swiss-Prot),   Q6XAR3 (UniProtKB/Swiss-Prot),   Q9NPC0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219212   ⟸   XM_054363237
- Peptide Label: isoform X1
- UniProtKB: Q9BXL5 (UniProtKB/Swiss-Prot),   Q86XY5 (UniProtKB/Swiss-Prot),   Q6XAR3 (UniProtKB/Swiss-Prot),   Q9NPC0 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXL5-F1-model_v2 AlphaFold Q9BXL5 1-484 view protein structure

Promoters
RGD ID:7215619
Promoter ID:EPDNEW_H13556
Type:initiation region
Name:HEMGN_1
Description:hemogen
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13557  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,938,168 - 97,938,228EPDNEW
RGD ID:7215621
Promoter ID:EPDNEW_H13557
Type:initiation region
Name:HEMGN_2
Description:hemogen
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13556  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38997,944,852 - 97,944,912EPDNEW
RGD ID:6807768
Promoter ID:HG_KWN:64271
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_197978
Position:
Human AssemblyChrPosition (strand)Source
Build 36999,740,036 - 99,740,537 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17509 AgrOrtholog
COSMIC HEMGN COSMIC
Ensembl Genes ENSG00000136929 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000259456 ENTREZGENE
  ENST00000259456.7 UniProtKB/Swiss-Prot
  ENST00000616898 ENTREZGENE
  ENST00000616898.2 UniProtKB/Swiss-Prot
GTEx ENSG00000136929 GTEx
HGNC ID HGNC:17509 ENTREZGENE
Human Proteome Map HEMGN Human Proteome Map
InterPro Hemogen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55363 UniProtKB/Swiss-Prot
NCBI Gene 55363 ENTREZGENE
OMIM 610715 OMIM
PANTHER HEMOGEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15993 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38458 PharmGKB
UniProt A8K8S6 ENTREZGENE, UniProtKB/TrEMBL
  HEMGN_HUMAN UniProtKB/Swiss-Prot
  Q6XAR3 ENTREZGENE
  Q86XY5 ENTREZGENE
  Q9BXL5 ENTREZGENE
  Q9NPC0 ENTREZGENE
UniProt Secondary Q6XAR3 UniProtKB/Swiss-Prot
  Q86XY5 UniProtKB/Swiss-Prot
  Q9NPC0 UniProtKB/Swiss-Prot