FAM219A (family with sequence similarity 219 member A) - Rat Genome Database

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Gene: FAM219A (family with sequence similarity 219 member A) Homo sapiens
Analyze
Symbol: FAM219A
Name: family with sequence similarity 219 member A
RGD ID: 1350147
HGNC Page HGNC:19920
Description: The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bA573M23.5; C9orf25; family with sequence similarity 219, member A; FLJ39031; hypothetical protein LOC203259; uncharacterized protein C9orf25
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
GRCh38934,398,184 - 34,458,570 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl934,398,184 - 34,458,570 (-)EnsemblGRCh38hg38GRCh38
GRCh37934,398,182 - 34,458,568 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,388,182 - 34,448,568 (-)NCBINCBI36Build 36hg18NCBI36
Build 34934,388,182 - 34,448,568NCBI
Celera934,329,683 - 34,390,068 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef934,353,280 - 34,412,900 (-)NCBIHuRef
CHM1_1934,397,971 - 34,458,350 (-)NCBICHM1_1
T2T-CHM13v2.0934,416,674 - 34,477,091 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:12477932   PMID:14702039   PMID:15164053   PMID:15489334   PMID:16169070   PMID:16344560   PMID:17081983   PMID:20379614   PMID:21900206   PMID:25900982  
PMID:26186194   PMID:26638075   PMID:26760575   PMID:28514442   PMID:29117863   PMID:29568061   PMID:32296183   PMID:33961781   PMID:34079125   PMID:35844135  


Genomics

Comparative Map Data
FAM219A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38934,398,184 - 34,458,570 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl934,398,184 - 34,458,570 (-)EnsemblGRCh38hg38GRCh38
GRCh37934,398,182 - 34,458,568 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,388,182 - 34,448,568 (-)NCBINCBI36Build 36hg18NCBI36
Build 34934,388,182 - 34,448,568NCBI
Celera934,329,683 - 34,390,068 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef934,353,280 - 34,412,900 (-)NCBIHuRef
CHM1_1934,397,971 - 34,458,350 (-)NCBICHM1_1
T2T-CHM13v2.0934,416,674 - 34,477,091 (-)NCBIT2T-CHM13v2.0
Fam219a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39441,517,691 - 41,569,538 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl441,517,691 - 41,569,538 (-)EnsemblGRCm39 Ensembl
GRCm38441,517,691 - 41,569,607 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl441,517,691 - 41,569,538 (-)EnsemblGRCm38mm10GRCm38
MGSCv37441,465,962 - 41,516,560 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36441,707,600 - 41,758,209 (-)NCBIMGSCv36mm8
Celera441,180,182 - 41,231,217 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map421.71NCBI
Fam219a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8561,475,185 - 61,525,749 (-)NCBIGRCr8
mRatBN7.2556,679,272 - 56,729,959 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl556,680,613 - 56,729,924 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx558,663,102 - 58,712,388 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0560,481,904 - 60,531,191 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0560,462,626 - 60,511,887 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0557,896,824 - 57,947,569 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl557,897,368 - 57,947,183 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0562,424,731 - 62,474,279 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,939,482 - 58,988,651 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera555,276,436 - 55,325,664 (-)NCBICelera
Cytogenetic Map5q22NCBI
Fam219a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,668,431 - 1,718,187 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,668,400 - 1,718,194 (+)NCBIChiLan1.0ChiLan1.0
FAM219A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21190,145,753 - 90,205,911 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1990,151,497 - 90,211,848 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0934,234,499 - 34,294,823 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1935,043,472 - 35,103,915 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,043,472 - 35,103,920 (-)Ensemblpanpan1.1panPan2
FAM219A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,092,364 - 51,144,324 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,092,470 - 51,144,168 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1149,721,928 - 49,773,555 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01152,034,353 - 52,086,012 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1152,034,362 - 52,085,874 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11150,697,042 - 50,748,650 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01150,565,146 - 50,616,787 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01151,329,945 - 51,381,569 (-)NCBIUU_Cfam_GSD_1.0
Fam219a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947165,945,735 - 166,003,527 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365242,492,634 - 2,551,147 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365242,494,954 - 2,550,992 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM219A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1032,355,647 - 32,420,092 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11032,355,628 - 32,422,412 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21036,580,783 - 36,588,832 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAM219A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11246,156,121 - 46,215,070 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1246,156,131 - 46,217,015 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603843,272,606 - 43,331,627 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam219a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473638,800,474 - 38,858,776 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473638,788,654 - 38,858,816 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM219A
6 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 9p24.3-13.1(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 9p24.3-13.1(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 9p24.3-13.1(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 9p24.3-13.3(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-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-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 9p24.3-13.1(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 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3
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 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
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 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
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-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 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
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-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-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 9p24.3-13.1(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 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
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 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely 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 9p24.3-13.1(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 9p13.3(chr9:33646893-34484057)x3 copy number gain See cases [RCV000143498] Chr9:33646893..34484057 [GRCh38]
Chr9:33646891..34484055 [GRCh37]
Chr9:33636891..34474055 [NCBI36]
Chr9:9p13.3
uncertain significance
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 9p24.3-11.2(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 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
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-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-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
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-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-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 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
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
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-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
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-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-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(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely 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-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 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-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-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2
uncertain significance|no classifications from unflagged records
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-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-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NC_000009.11:g.(?_32453279)_(35068379_?)dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109611] Chr9:32453279..35068379 [GRCh37]
Chr9:9p21.1-13.3
uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1
likely pathogenic
GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4 copy number gain not specified [RCV002286368] Chr9:33492358..34725916 [GRCh38]
Chr9:9p13.3
uncertain significance
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 9p13.3(chr9:34247282-34986900)x4 copy number gain not provided [RCV002473496] Chr9:34247282..34986900 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001184940.2(FAM219A):c.170G>A (p.Arg57Gln) single nucleotide variant Inborn genetic diseases [RCV002694242] Chr9:34402798 [GRCh38]
Chr9:34402796 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001184940.2(FAM219A):c.143C>T (p.Pro48Leu) single nucleotide variant Inborn genetic diseases [RCV002807379] Chr9:34405882 [GRCh38]
Chr9:34405880 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001184940.2(FAM219A):c.382G>A (p.Gly128Ser) single nucleotide variant Inborn genetic diseases [RCV003300407] Chr9:34401683 [GRCh38]
Chr9:34401681 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001184940.2(FAM219A):c.257G>A (p.Arg86Gln) single nucleotide variant Inborn genetic diseases [RCV003210843] Chr9:34402711 [GRCh38]
Chr9:34402709 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001184940.2(FAM219A):c.245A>G (p.Asn82Ser) single nucleotide variant Inborn genetic diseases [RCV003173399] Chr9:34402723 [GRCh38]
Chr9:34402721 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001184940.2(FAM219A):c.509C>T (p.Thr170Met) single nucleotide variant Inborn genetic diseases [RCV003377150] Chr9:34401013 [GRCh38]
Chr9:34401011 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001184940.2(FAM219A):c.190T>C (p.Ser64Pro) single nucleotide variant Inborn genetic diseases [RCV003352383] Chr9:34402778 [GRCh38]
Chr9:34402776 [GRCh37]
Chr9:9p13.3
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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11985
Count of miRNA genes:1018
Interacting mature miRNAs:1268
Transcripts:ENST00000297620, ENST00000379078, ENST00000379080, ENST00000379081, ENST00000379084, ENST00000379087, ENST00000379089, ENST00000422409, ENST00000445726
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-147519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,444,427 - 34,444,765UniSTSGRCh37
Build 36934,434,427 - 34,434,765RGDNCBI36
Celera934,375,927 - 34,376,265RGD
Cytogenetic Map9p13.3UniSTS
HuRef934,398,759 - 34,399,097UniSTS
TNG Radiation Hybrid Map918690.0UniSTS
RH12896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,398,350 - 34,398,498UniSTSGRCh37
Build 36934,388,350 - 34,388,498RGDNCBI36
Celera934,329,851 - 34,329,999RGD
Cytogenetic Map9p13.3UniSTS
HuRef934,353,448 - 34,353,596UniSTS
GeneMap99-GB4 RH Map9137.88UniSTS
NCBI RH Map9447.9UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2125 2399 1368 275 951 132 4334 2091 3704 325 1388 1573 157 1204 2775 3
Low 313 592 358 349 994 333 23 106 30 94 71 39 18 1 13 2 2
Below cutoff 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_147202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF131828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041009 (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
  DA110626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000297620   ⟹   ENSP00000297620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,398,190 - 34,458,570 (-)Ensembl
RefSeq Acc Id: ENST00000379078   ⟹   ENSP00000368369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,402,250 - 34,458,552 (-)Ensembl
RefSeq Acc Id: ENST00000379080   ⟹   ENSP00000368371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,398,184 - 34,458,552 (-)Ensembl
RefSeq Acc Id: ENST00000379081   ⟹   ENSP00000368372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,398,184 - 34,458,552 (-)Ensembl
RefSeq Acc Id: ENST00000379084   ⟹   ENSP00000368377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,398,184 - 34,458,552 (-)Ensembl
RefSeq Acc Id: ENST00000379087   ⟹   ENSP00000368380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,398,184 - 34,458,552 (-)Ensembl
RefSeq Acc Id: ENST00000379089   ⟹   ENSP00000368382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,398,184 - 34,458,552 (-)Ensembl
RefSeq Acc Id: ENST00000422409   ⟹   ENSP00000409737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,401,013 - 34,458,552 (-)Ensembl
RefSeq Acc Id: ENST00000445726   ⟹   ENSP00000392452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,398,185 - 34,458,570 (-)Ensembl
RefSeq Acc Id: ENST00000651358   ⟹   ENSP00000499069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,398,184 - 34,458,570 (-)Ensembl
RefSeq Acc Id: NM_001184940   ⟹   NP_001171869
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,398,184 - 34,458,570 (-)NCBI
GRCh37934,398,182 - 34,458,568 (-)RGD
Celera934,329,683 - 34,390,068 (-)RGD
HuRef934,353,280 - 34,412,900 (-)ENTREZGENE
CHM1_1934,397,971 - 34,458,350 (-)NCBI
T2T-CHM13v2.0934,416,674 - 34,477,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184941   ⟹   NP_001171870
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,398,184 - 34,458,570 (-)NCBI
GRCh37934,398,182 - 34,458,568 (-)RGD
Celera934,329,683 - 34,390,068 (-)RGD
HuRef934,353,280 - 34,412,900 (-)ENTREZGENE
CHM1_1934,397,971 - 34,458,350 (-)NCBI
T2T-CHM13v2.0934,416,674 - 34,477,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184942   ⟹   NP_001171871
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,398,184 - 34,458,570 (-)NCBI
GRCh37934,398,182 - 34,458,568 (-)RGD
Celera934,329,683 - 34,390,068 (-)RGD
HuRef934,353,280 - 34,412,900 (-)ENTREZGENE
CHM1_1934,397,971 - 34,458,350 (-)NCBI
T2T-CHM13v2.0934,416,674 - 34,477,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184943   ⟹   NP_001171872
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,398,184 - 34,458,570 (-)NCBI
GRCh37934,398,182 - 34,458,568 (-)RGD
Celera934,329,683 - 34,390,068 (-)RGD
HuRef934,353,280 - 34,412,900 (-)ENTREZGENE
CHM1_1934,397,971 - 34,458,350 (-)NCBI
T2T-CHM13v2.0934,416,674 - 34,477,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184945   ⟹   NP_001171874
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,398,184 - 34,458,570 (-)NCBI
GRCh37934,398,182 - 34,458,568 (-)RGD
Celera934,329,683 - 34,390,068 (-)RGD
HuRef934,353,280 - 34,412,900 (-)ENTREZGENE
CHM1_1934,397,971 - 34,458,350 (-)NCBI
T2T-CHM13v2.0934,416,674 - 34,477,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_147202   ⟹   NP_671735
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,398,184 - 34,458,570 (-)NCBI
GRCh37934,398,182 - 34,458,568 (-)RGD
Build 36934,388,182 - 34,448,568 (-)NCBI Archive
Celera934,329,683 - 34,390,068 (-)RGD
HuRef934,353,280 - 34,412,900 (-)ENTREZGENE
CHM1_1934,397,971 - 34,458,350 (-)NCBI
T2T-CHM13v2.0934,416,674 - 34,477,091 (-)NCBI
Sequence:
RefSeq Acc Id: NP_671735   ⟸   NM_147202
- Peptide Label: isoform 4
- UniProtKB: A0A0A0MRW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171869   ⟸   NM_001184940
- Peptide Label: isoform 1
- UniProtKB: Q5T595 (UniProtKB/Swiss-Prot),   Q5T594 (UniProtKB/Swiss-Prot),   Q5T592 (UniProtKB/Swiss-Prot),   Q5T591 (UniProtKB/Swiss-Prot),   Q5T590 (UniProtKB/Swiss-Prot),   B4DSR8 (UniProtKB/Swiss-Prot),   B4DFE1 (UniProtKB/Swiss-Prot),   A2A364 (UniProtKB/Swiss-Prot),   Q8TAZ8 (UniProtKB/Swiss-Prot),   Q8IW50 (UniProtKB/Swiss-Prot),   A0A0A0MRW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171870   ⟸   NM_001184941
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MRW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171871   ⟸   NM_001184942
- Peptide Label: isoform 3
- UniProtKB: A0A0A0MRW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171872   ⟸   NM_001184943
- Peptide Label: isoform 5
- UniProtKB: A0A0A0MRW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171874   ⟸   NM_001184945
- Peptide Label: isoform 7
- UniProtKB: A0A0A0MRW1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000297620   ⟸   ENST00000297620
RefSeq Acc Id: ENSP00000499069   ⟸   ENST00000651358
RefSeq Acc Id: ENSP00000368369   ⟸   ENST00000379078
RefSeq Acc Id: ENSP00000368377   ⟸   ENST00000379084
RefSeq Acc Id: ENSP00000368371   ⟸   ENST00000379080
RefSeq Acc Id: ENSP00000368372   ⟸   ENST00000379081
RefSeq Acc Id: ENSP00000368380   ⟸   ENST00000379087
RefSeq Acc Id: ENSP00000368382   ⟸   ENST00000379089
RefSeq Acc Id: ENSP00000392452   ⟸   ENST00000445726
RefSeq Acc Id: ENSP00000409737   ⟸   ENST00000422409

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IW50-F1-model_v2 AlphaFold Q8IW50 1-185 view protein structure

Promoters
RGD ID:6807453
Promoter ID:HG_KWN:63003
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000359556,   ENST00000379040,   ENST00000379078,   ENST00000379080,   ENST00000379081,   ENST00000379087,   ENST00000379089,   NM_001184940,   NM_001184945,   NM_012144,   NM_147202,   OTTHUMT00000052193
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,447,941 - 34,448,992 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19920 AgrOrtholog
COSMIC FAM219A COSMIC
Ensembl Genes ENSG00000164970 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297620 ENTREZGENE
  ENST00000297620.8 UniProtKB/Swiss-Prot
  ENST00000379078.1 UniProtKB/TrEMBL
  ENST00000379080 ENTREZGENE
  ENST00000379080.5 UniProtKB/TrEMBL
  ENST00000379081 ENTREZGENE
  ENST00000379081.5 UniProtKB/TrEMBL
  ENST00000379084.5 UniProtKB/TrEMBL
  ENST00000379087 ENTREZGENE
  ENST00000379087.5 UniProtKB/TrEMBL
  ENST00000379089 ENTREZGENE
  ENST00000379089.5 UniProtKB/TrEMBL
  ENST00000422409.5 UniProtKB/TrEMBL
  ENST00000445726.5 UniProtKB/Swiss-Prot
  ENST00000651358 ENTREZGENE
  ENST00000651358.1 UniProtKB/Swiss-Prot
GTEx ENSG00000164970 GTEx
HGNC ID HGNC:19920 ENTREZGENE
Human Proteome Map FAM219A Human Proteome Map
InterPro FAM219 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:203259 UniProtKB/Swiss-Prot
NCBI Gene 203259 ENTREZGENE
PANTHER PROTEIN FAM219A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM219A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134916501 PharmGKB
UniProt A0A0A0MRV9_HUMAN UniProtKB/TrEMBL
  A0A0A0MRW0 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MRW1 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MRW2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MRW3 ENTREZGENE, UniProtKB/TrEMBL
  A2A364 ENTREZGENE
  B4DFE1 ENTREZGENE
  B4DSR8 ENTREZGENE
  F219A_HUMAN UniProtKB/Swiss-Prot
  Q5T586_HUMAN UniProtKB/TrEMBL
  Q5T590 ENTREZGENE
  Q5T591 ENTREZGENE
  Q5T592 ENTREZGENE
  Q5T593_HUMAN UniProtKB/TrEMBL
  Q5T594 ENTREZGENE
  Q5T595 ENTREZGENE
  Q8IW50 ENTREZGENE
  Q8TAZ8 ENTREZGENE
UniProt Secondary A2A364 UniProtKB/Swiss-Prot
  B4DFE1 UniProtKB/Swiss-Prot
  B4DSR8 UniProtKB/Swiss-Prot
  Q5T590 UniProtKB/Swiss-Prot
  Q5T591 UniProtKB/Swiss-Prot
  Q5T592 UniProtKB/Swiss-Prot
  Q5T594 UniProtKB/Swiss-Prot
  Q5T595 UniProtKB/Swiss-Prot
  Q8TAZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM219A  family with sequence similarity 219 member A  FAM219A  family with sequence similarity 219, member A  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM219A  family with sequence similarity 219 member A  FAM219A  family with sequence similarity 219, member A  Symbol and/or name change 5135510 APPROVED
2012-03-13 FAM219A  family with sequence similarity 219, member A  C9orf25  chromosome 9 open reading frame 25  Symbol and/or name change 5135510 APPROVED