FAM110D (family with sequence similarity 110 member D) - Rat Genome Database

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Gene: FAM110D (family with sequence similarity 110 member D) Homo sapiens
Analyze
Symbol: FAM110D
Name: family with sequence similarity 110 member D
RGD ID: 1602464
HGNC Page HGNC:25860
Description: ASSOCIATED WITH autosomal recessive hypercholesterolemia; retinitis pigmentosa 59; INTERACTS WITH all-trans-retinoic acid; arsane; arsenic atom
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: family with sequence similarity 110, member D; FLJ14050; glycine/arginine rich protein 1; glycine/arginine-rich protein 1; GRRP1; RP11-96L14.5
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
GRCh38126,159,079 - 26,163,962 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,159,079 - 26,163,962 (+)EnsemblGRCh38hg38GRCh38
GRCh37126,485,570 - 26,490,453 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,358,098 - 26,361,706 (+)NCBINCBI36Build 36hg18NCBI36
Celera124,882,208 - 24,885,816 (+)NCBICelera
Cytogenetic Map1p36.11NCBI
HuRef124,739,879 - 24,743,487 (+)NCBIHuRef
CHM1_1126,598,737 - 26,602,345 (+)NCBICHM1_1
T2T-CHM13v2.0125,996,509 - 26,001,393 (+)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
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:12477932   PMID:14702039   PMID:16344560   PMID:33621312   PMID:33961781  


Genomics

Comparative Map Data
FAM110D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,159,079 - 26,163,962 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,159,079 - 26,163,962 (+)EnsemblGRCh38hg38GRCh38
GRCh37126,485,570 - 26,490,453 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,358,098 - 26,361,706 (+)NCBINCBI36Build 36hg18NCBI36
Celera124,882,208 - 24,885,816 (+)NCBICelera
Cytogenetic Map1p36.11NCBI
HuRef124,739,879 - 24,743,487 (+)NCBIHuRef
CHM1_1126,598,737 - 26,602,345 (+)NCBICHM1_1
T2T-CHM13v2.0125,996,509 - 26,001,393 (+)NCBIT2T-CHM13v2.0
Fam110d
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394133,978,413 - 133,993,528 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4133,978,421 - 133,981,417 (-)EnsemblGRCm39 Ensembl
GRCm384134,251,102 - 134,266,196 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4134,251,110 - 134,254,106 (-)EnsemblGRCm38mm10GRCm38
MGSCv374133,807,025 - 133,810,021 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364133,523,186 - 133,540,462 (-)NCBIMGSCv36mm8
Celera4132,430,926 - 132,433,919 (-)NCBICelera
Cytogenetic Map4D2.3NCBI
cM Map466.5NCBI
Fam110d
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85151,754,773 - 151,757,743 (-)NCBIGRCr8
mRatBN7.25146,471,048 - 146,474,019 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5146,471,049 - 146,474,056 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5149,173,025 - 149,175,988 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05150,943,194 - 150,946,157 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05150,929,239 - 150,932,202 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05152,470,898 - 152,473,903 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5152,470,905 - 152,473,868 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05156,229,913 - 156,232,912 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45152,996,110 - 152,999,073 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5144,888,738 - 144,891,701 (-)NCBICelera
Cytogenetic Map5q36NCBI
Fam110d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554525,603,203 - 5,605,815 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554525,603,203 - 5,605,815 (+)NCBIChiLan1.0ChiLan1.0
FAM110D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21200,708,665 - 200,712,290 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11199,806,780 - 199,810,395 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0125,420,411 - 25,424,036 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1126,487,460 - 26,491,058 (+)NCBIpanpan1.1PanPan1.1panPan2
FAM110D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,826,573 - 73,834,040 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,826,900 - 73,827,727 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha270,402,903 - 70,410,311 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0274,389,688 - 74,397,083 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl274,389,710 - 74,392,744 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1271,214,080 - 71,221,463 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0272,219,813 - 72,227,203 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0273,223,734 - 73,231,149 (-)NCBIUU_Cfam_GSD_1.0
Fam110d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505844,857,144 - 44,860,939 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647410,683,979 - 10,685,074 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647410,682,107 - 10,685,721 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM110D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl683,581,362 - 83,584,444 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1683,581,341 - 83,584,444 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
FAM110D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120106,605,468 - 106,610,006 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20106,606,018 - 106,606,836 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660339,810,036 - 9,813,674 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam110d
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476410,211,953 - 10,214,647 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476410,180,642 - 10,215,199 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM110D
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NC_000001.10:g.(?_25870180)_(26795632_?)del deletion Hypercholesterolemia, familial, 4 [RCV001385284] Chr1:25870180..26795632 [GRCh37]
Chr1:1p36.11
pathogenic
GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3 copy number gain not provided [RCV001829142] Chr1:26246213..27044118 [GRCh37]
Chr1:1p36.11
uncertain significance
NC_000001.10:g.(?_25870190)_(27278871_?)dup duplication Retinitis pigmentosa 59 [RCV003122734] Chr1:25870190..27278871 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.200C>T (p.Pro67Leu) single nucleotide variant not specified [RCV004182215] Chr1:26161491 [GRCh38]
Chr1:26487982 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.725C>T (p.Pro242Leu) single nucleotide variant not specified [RCV004133146] Chr1:26162016 [GRCh38]
Chr1:26488507 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.547C>G (p.Arg183Gly) single nucleotide variant not specified [RCV004110626] Chr1:26161838 [GRCh38]
Chr1:26488329 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.725C>G (p.Pro242Arg) single nucleotide variant not specified [RCV004165062] Chr1:26162016 [GRCh38]
Chr1:26488507 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.616G>C (p.Gly206Arg) single nucleotide variant not specified [RCV004267207] Chr1:26161907 [GRCh38]
Chr1:26488398 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.100G>C (p.Val34Leu) single nucleotide variant not specified [RCV004268697] Chr1:26161391 [GRCh38]
Chr1:26487882 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.272G>A (p.Arg91Gln) single nucleotide variant not specified [RCV004273896] Chr1:26161563 [GRCh38]
Chr1:26488054 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.737T>C (p.Val246Ala) single nucleotide variant not specified [RCV004267854] Chr1:26162028 [GRCh38]
Chr1:26488519 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.590C>G (p.Ala197Gly) single nucleotide variant not specified [RCV004249844] Chr1:26161881 [GRCh38]
Chr1:26488372 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.640A>C (p.Ser214Arg) single nucleotide variant not specified [RCV004348815] Chr1:26161931 [GRCh38]
Chr1:26488422 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.35G>C (p.Gly12Ala) single nucleotide variant not specified [RCV004354053] Chr1:26161326 [GRCh38]
Chr1:26487817 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.604C>G (p.Pro202Ala) single nucleotide variant not specified [RCV004360377] Chr1:26161895 [GRCh38]
Chr1:26488386 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
NM_024869.3(FAM110D):c.394G>T (p.Ala132Ser) single nucleotide variant not specified [RCV004378513] Chr1:26161685 [GRCh38]
Chr1:26488176 [GRCh37]
Chr1:1p36.11
likely benign
NM_024869.3(FAM110D):c.427C>G (p.Pro143Ala) single nucleotide variant not specified [RCV004378514] Chr1:26161718 [GRCh38]
Chr1:26488209 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.751C>T (p.Arg251Cys) single nucleotide variant not specified [RCV004378518] Chr1:26162042 [GRCh38]
Chr1:26488533 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.698C>T (p.Ala233Val) single nucleotide variant not specified [RCV004378516] Chr1:26161989 [GRCh38]
Chr1:26488480 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024869.3(FAM110D):c.718C>T (p.Arg240Cys) single nucleotide variant not specified [RCV004378517] Chr1:26162009 [GRCh38]
Chr1:26488500 [GRCh37]
Chr1:1p36.11
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1915hsa-miR-1915-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:334
Count of miRNA genes:238
Interacting mature miRNAs:241
Transcripts:ENST00000374268
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

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 325 211 325 2 28 1 1050 235 370 38 208 488 1 808 489
Low 2005 1965 1139 384 535 222 3157 1910 3215 333 1120 954 164 1 396 2235 2 2
Below cutoff 73 677 243 226 695 230 108 43 135 29 102 122 7 64 3

Sequence


RefSeq Acc Id: ENST00000374268   ⟹   ENSP00000363386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,159,079 - 26,163,962 (+)Ensembl
RefSeq Acc Id: NM_024869   ⟹   NP_079145
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,159,079 - 26,163,962 (+)NCBI
GRCh37126,485,511 - 26,489,119 (+)RGD
Build 36126,358,098 - 26,361,706 (+)NCBI Archive
Celera124,882,208 - 24,885,816 (+)RGD
HuRef124,739,879 - 24,743,487 (+)RGD
CHM1_1126,598,737 - 26,602,345 (+)NCBI
T2T-CHM13v2.0125,996,509 - 26,001,393 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_079145 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH25658 (Get FASTA)   NCBI Sequence Viewer  
  BAB14829 (Get FASTA)   NCBI Sequence Viewer  
  BAF83404 (Get FASTA)   NCBI Sequence Viewer  
  EAX07844 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000363386
  ENSP00000363386.3
GenBank Protein Q8TAY7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079145   ⟸   NM_024869
- UniProtKB: A8K3V0 (UniProtKB/Swiss-Prot),   Q9H7Z4 (UniProtKB/Swiss-Prot),   Q8TAY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000363386   ⟸   ENST00000374268

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TAY7-F1-model_v2 AlphaFold Q8TAY7 1-271 view protein structure

Promoters
RGD ID:6854608
Promoter ID:EPDNEW_H469
Type:initiation region
Name:FAM110D_1
Description:family with sequence similarity 110 member D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,159,079 - 26,159,139EPDNEW
RGD ID:6785710
Promoter ID:HG_KWN:1470
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC009VSC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,360,731 - 26,361,231 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25860 AgrOrtholog
COSMIC FAM110D COSMIC
Ensembl Genes ENSG00000197245 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374268 ENTREZGENE
  ENST00000374268.5 UniProtKB/Swiss-Prot
GTEx ENSG00000197245 GTEx
HGNC ID HGNC:25860 ENTREZGENE
Human Proteome Map FAM110D Human Proteome Map
InterPro FAM110 UniProtKB/Swiss-Prot
  FAM110_C UniProtKB/Swiss-Prot
  FAM110_N UniProtKB/Swiss-Prot
KEGG Report hsa:79927 UniProtKB/Swiss-Prot
NCBI Gene 79927 ENTREZGENE
PANTHER PROTEIN FAM110D UniProtKB/Swiss-Prot
  PTHR14758 UniProtKB/Swiss-Prot
Pfam FAM110_C UniProtKB/Swiss-Prot
  FAM110_N UniProtKB/Swiss-Prot
PharmGKB PA142671706 PharmGKB
UniProt A8K3V0 ENTREZGENE
  F110D_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9H7Z4 ENTREZGENE
UniProt Secondary A8K3V0 UniProtKB/Swiss-Prot
  Q9H7Z4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM110D  family with sequence similarity 110 member D    family with sequence similarity 110, member D  Symbol and/or name change 5135510 APPROVED
2011-12-06 FAM110D  family with sequence similarity 110, member D  GRRP1  glycine/arginine rich protein 1  Symbol and/or name change 5135510 APPROVED