FAM90A15 (family with sequence similarity 90 member A15) - Rat Genome Database

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Gene: FAM90A15 (family with sequence similarity 90 member A15) Homo sapiens
Analyze
No known orthologs.
Symbol: FAM90A15 (Ensembl: FAM90A15P)
Name: family with sequence similarity 90 member A15 (Ensembl:family with sequence similarity 90 member A15, pseudogene)
RGD ID: 1604443
HGNC Page HGNC:32263
Description: FAM90A15 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]
Type: protein-coding
RefSeq Status: INFERRED
Previously known as: FAM90A15P; family with sequence similarity 90 member A15, pseudogene; family with sequence similarity 90, member A15; putative protein FAM90A15; putative protein FAM90A15P
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,256,904 - 7,259,914 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,256,904 - 7,259,914 (+)EnsemblGRCh38hg38GRCh38
GRCh3787,112,765 - 7,117,998 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,101,836 - 7,104,846 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map8p23.1NCBI
CHM1_187,502,399 - 7,505,464 (-)NCBICHM1_1
T2T-CHM13v2.087,002,916 - 7,005,926 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17684299   PMID:18602769  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|See cases [RCV000053605] Chr8:2475295..7895064 [GRCh38]
Chr8:2292235..7752586 [GRCh37]
Chr8:2193565..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000050282] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1 copy number loss See cases [RCV000053154] Chr8:7195664..12383643 [GRCh38]
Chr8:7053186..12241152 [GRCh37]
Chr8:7040596..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1 copy number loss See cases [RCV000053165] Chr8:7234837..12514815 [GRCh38]
Chr8:7092359..12372324 [GRCh37]
Chr8:7079769..12416695 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7256134-8222390)x1 copy number loss See cases [RCV000134102] Chr8:7256134..8222390 [GRCh38]
Chr8:7113656..8079912 [GRCh37]
Chr8:7101066..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 copy number gain See cases [RCV000138228] Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3 copy number gain See cases [RCV000138529] Chr8:7103661..12299882 [GRCh38]
Chr8:6961183..12157391 [GRCh37]
Chr8:6948593..12201760 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195674-7948705)x1 copy number loss See cases [RCV000142476] Chr8:7195674..7948705 [GRCh38]
Chr8:7053196..7806227 [GRCh37]
Chr8:7040606..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7187864-8222390)x1 copy number loss See cases [RCV000133754] Chr8:7187864..8222390 [GRCh38]
Chr8:7045386..8079912 [GRCh37]
Chr8:7032796..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:7256137-7948701)x3 copy number gain See cases [RCV000138765] Chr8:7256137..7948701 [GRCh38]
Chr8:7113659..7806223 [GRCh37]
Chr8:7101069..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000148205] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 copy number gain See cases [RCV000053601] Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7256134-7294303)x3 copy number gain See cases [RCV000134018] Chr8:7256134..7294303 [GRCh38]
Chr8:7113656..7151825 [GRCh37]
Chr8:7101066..7139235 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8222390)x1 copy number loss See cases [RCV000134077] Chr8:7253289..8222390 [GRCh38]
Chr8:7110811..8079912 [GRCh37]
Chr8:7098221..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1 copy number loss See cases [RCV000135293] Chr8:410369..7477103 [GRCh38]
Chr8:360369..7334625 [GRCh37]
Chr8:350369..7322035 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 copy number loss See cases [RCV000135534] Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7256139-8222398)x1 copy number loss See cases [RCV000137187] Chr8:7256139..8222398 [GRCh38]
Chr8:7113661..8079920 [GRCh37]
Chr8:7101071..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7142958-7895074)x3 copy number gain See cases [RCV000139295] Chr8:7142958..7895074 [GRCh38]
Chr8:7000480..7752596 [GRCh37]
Chr8:6987890..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7205665-7948701)x3 copy number gain See cases [RCV000139683] Chr8:7205665..7948701 [GRCh38]
Chr8:7063187..7806223 [GRCh37]
Chr8:7050597..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7895074)x1 copy number loss See cases [RCV000142421] Chr8:7195674..7895074 [GRCh38]
Chr8:7053196..7752596 [GRCh37]
Chr8:7040606..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3 copy number gain See cases [RCV000142961] Chr8:6786638..8364508 [GRCh38]
Chr8:6644159..8222024 [GRCh37]
Chr8:6631569..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000050276] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000050621] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x3 copy number gain See cases [RCV000133660] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8273167)x1 copy number loss See cases [RCV000133700] Chr8:7195664..8273167 [GRCh38]
Chr8:7053186..8130689 [GRCh37]
Chr8:7040596..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8023794)x3 copy number gain See cases [RCV000134011] Chr8:7256134..8023794 [GRCh38]
Chr8:7113656..7881316 [GRCh37]
Chr8:7101066..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8023794)x1 copy number loss See cases [RCV000134015] Chr8:7253289..8023794 [GRCh38]
Chr8:7110811..7881316 [GRCh37]
Chr8:7098221..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-7294303)x1 copy number loss See cases [RCV000134019] Chr8:7256134..7294303 [GRCh38]
Chr8:7113656..7151825 [GRCh37]
Chr8:7101066..7139235 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7834323)x1 copy number loss See cases [RCV000134832] Chr8:7195674..7834323 [GRCh38]
Chr8:7053196..7691845 [GRCh37]
Chr8:7040606..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 copy number loss See cases [RCV000134879] Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195674-8273109)x1 copy number loss See cases [RCV000136011] Chr8:7195674..8273109 [GRCh38]
Chr8:7053196..8130631 [GRCh37]
Chr8:7040606..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 copy number gain See cases [RCV000137206] Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7948701)x1 copy number loss See cases [RCV000138764] Chr8:7256137..7948701 [GRCh38]
Chr8:7113659..7806223 [GRCh37]
Chr8:7101069..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 copy number loss See cases [RCV000138943] Chr8:3934205..11526939 [GRCh38]
Chr8:3791727..11384448 [GRCh37]
Chr8:3779135..11421857 [NCBI36]
Chr8:8p23.2-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x1 copy number loss See cases [RCV000138991] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-8222390)x1 copy number loss See cases [RCV000142401] Chr8:7195674..8222390 [GRCh38]
Chr8:7053196..8079912 [GRCh37]
Chr8:7040606..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1 copy number loss See cases [RCV000142847] Chr8:7256137..7981415 [GRCh38]
Chr8:7113659..7838937 [GRCh37]
Chr8:7101069..7876347 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1 copy number loss See cases [RCV000050650] Chr8:7022782..8273167 [GRCh38]
Chr8:6880304..8130689 [GRCh37]
Chr8:6867714..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-8222398)x3 copy number gain See cases [RCV000133631] Chr8:7022782..8222398 [GRCh38]
Chr8:6880304..8079920 [GRCh37]
Chr8:6867714..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-7834438)x1 copy number loss See cases [RCV000133666] Chr8:7195664..7834438 [GRCh38]
Chr8:7053186..7691960 [GRCh37]
Chr8:7040596..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-7895064)x1 copy number loss See cases [RCV000133718] Chr8:7022782..7895064 [GRCh38]
Chr8:6880304..7752586 [GRCh37]
Chr8:6867714..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-7948707)x1 copy number loss See cases [RCV000133910] Chr8:7195664..7948707 [GRCh38]
Chr8:7053186..7806229 [GRCh37]
Chr8:7040596..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8023794)x1 copy number loss See cases [RCV000134012] Chr8:7256134..8023794 [GRCh38]
Chr8:7113656..7881316 [GRCh37]
Chr8:7101066..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7217074-8222390)x1 copy number loss See cases [RCV000134024] Chr8:7217074..8222390 [GRCh38]
Chr8:7074596..8079912 [GRCh37]
Chr8:7062006..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.1(chr8:7253289-8034272)x1 copy number loss See cases [RCV000134087] Chr8:7253289..8034272 [GRCh38]
Chr8:7110811..7891794 [GRCh37]
Chr8:7098221..7929204 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7217074-8070470)x1 copy number loss See cases [RCV000134098] Chr8:7217074..8070470 [GRCh38]
Chr8:7074596..7927992 [GRCh37]
Chr8:7062006..7965402 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x3 copy number gain See cases [RCV000138990] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.1(chr8:7256134-8188790)x1 copy number loss See cases [RCV000142409] Chr8:7256134..8188790 [GRCh38]
Chr8:7113656..8046312 [GRCh37]
Chr8:7101066..8083722 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 copy number loss See cases [RCV000142596] Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000148188] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000148253] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:710
Count of miRNA genes:317
Interacting mature miRNAs:345
Transcripts:ENST00000414026, ENST00000514465
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.


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

integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium
Low
Below cutoff 3 1 4 1 2 7 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000514465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl87,256,904 - 7,259,914 (+)Ensembl
RefSeq Acc Id: NM_001423538   ⟹   NP_001410467
RefSeq Status: INFERRED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,256,904 - 7,259,914 (+)NCBI
T2T-CHM13v2.087,002,916 - 7,005,926 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001410467 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000514261
  ENSP00000514261.1
GenBank Protein P0C7V4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001410467   ⟸   NM_001423538
- UniProtKB: Q658T7 (UniProtKB/Swiss-Prot),   P0C7V4 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0C7V4-F1-model_v2 AlphaFold P0C7V4 1-464 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32263 AgrOrtholog
COSMIC FAM90A15 COSMIC
Ensembl Genes ENSG00000230045 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000514465 ENTREZGENE
  ENST00000514465.1 UniProtKB/Swiss-Prot
GTEx ENSG00000230045 GTEx
HGNC ID HGNC:32263 ENTREZGENE
Human Proteome Map FAM90A15 Human Proteome Map
InterPro FAM90 UniProtKB/Swiss-Prot
  Znf-CCHC_6 UniProtKB/Swiss-Prot
NCBI Gene 389630 ENTREZGENE
OMIM 613051 OMIM
PANTHER PROTEIN FAM90A10P-RELATED UniProtKB/Swiss-Prot
  PTHR16035 UniProtKB/Swiss-Prot
Pfam zf-CCHC_6 UniProtKB/Swiss-Prot
PharmGKB PA142671810 PharmGKB
UniProt F90AJ_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q658T7 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-08-21 FAM90A15  family with sequence similarity 90 member A15  FAM90A15P  family with sequence similarity 90 member A15, pseudogene  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 FAM90A15P  family with sequence similarity 90 member A15, pseudogene    family with sequence similarity 90, member A15, pseudogene  Symbol and/or name change 5135510 APPROVED
2012-03-01 FAM90A15P  family with sequence similarity 90, member A15, pseudogene  FAM90A15  family with sequence similarity 90, member A15  Symbol and/or name change 5135510 APPROVED