FAM91A1 (family with sequence similarity 91 member A1) - Rat Genome Database

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Gene: FAM91A1 (family with sequence similarity 91 member A1) Homo sapiens
Analyze
Symbol: FAM91A1
Name: family with sequence similarity 91 member A1
RGD ID: 1605857
HGNC Page HGNC
Description: Involved in intracellular protein transport and vesicle tethering to Golgi. Localizes to cytoplasmic vesicle and trans-Golgi network; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; antirheumatic drug.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp666B104; family with sequence similarity 91, member A1; FLJ23790; hypothetical protein LOC157769; skeletal muscle cells re-entry induced
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AP003717.3   FAM91A2P   FAM91A3P   FAM91A4P   LOC647481  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,768,439 - 123,815,452 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,768,439 - 123,815,452 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,780,679 - 124,827,692 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,850,063 - 124,896,873 (+)NCBINCBI36hg18NCBI36
Celera8120,968,947 - 121,015,229 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,107,371 - 120,154,391 (+)NCBIHuRef
CHM1_18124,820,954 - 124,867,970 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15146197   PMID:15302935   PMID:16421571   PMID:17081983   PMID:19734545   PMID:20686608   PMID:21873635   PMID:25147182   PMID:25198678   PMID:25281560  
PMID:25468996   PMID:25921289   PMID:26186194   PMID:26389662   PMID:26496610   PMID:26638075   PMID:26673895   PMID:27432908   PMID:27880917   PMID:28514442   PMID:28515276   PMID:28718761  
PMID:29084197   PMID:29229926   PMID:29426865   PMID:29549242   PMID:29568061   PMID:30194290   PMID:30940648   PMID:31091453   PMID:31519766   PMID:31527615   PMID:31732153  


Genomics

Comparative Map Data
FAM91A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,768,439 - 123,815,452 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,768,439 - 123,815,452 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,780,679 - 124,827,692 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,850,063 - 124,896,873 (+)NCBINCBI36hg18NCBI36
Celera8120,968,947 - 121,015,229 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,107,371 - 120,154,391 (+)NCBIHuRef
CHM1_18124,820,954 - 124,867,970 (+)NCBICHM1_1
Fam91a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,277,868 - 58,329,650 (+)NCBIGRCm39mm39
GRCm39 Ensembl1558,287,317 - 58,329,589 (+)Ensembl
GRCm381558,405,907 - 58,457,801 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,415,468 - 58,457,740 (+)EnsemblGRCm38mm10GRCm38
MGSCv371558,247,023 - 58,289,356 (+)NCBIGRCm37mm9NCBIm37
MGSCv361558,257,189 - 58,287,822 (+)NCBImm8
Celera1559,943,740 - 59,986,510 (+)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1524.76NCBI
Fam91a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2789,969,558 - 90,007,546 (+)NCBI
Rnor_6.0 Ensembl798,302,953 - 98,342,367 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0798,302,803 - 98,341,201 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,904,335 - 98,942,732 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,156,793 - 95,194,731 (+)NCBIRGSC3.4rn4RGSC3.4
Celera786,737,368 - 86,775,231 (+)NCBICelera
Cytogenetic Map7q33NCBI
Fam91a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555402,561,695 - 2,601,230 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555402,561,695 - 2,600,144 (+)NCBIChiLan1.0ChiLan1.0
FAM91A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18123,218,674 - 123,265,837 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8123,218,674 - 123,265,838 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08120,463,599 - 120,510,937 (+)NCBIMhudiblu_PPA_v0panPan3
FAM91A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11322,036,518 - 22,082,278 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1322,036,776 - 22,076,751 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1322,002,255 - 22,045,005 (+)NCBI
ROS_Cfam_1.01322,378,286 - 22,421,246 (+)NCBI
UMICH_Zoey_3.11322,104,943 - 22,147,679 (+)NCBI
UNSW_CanFamBas_1.01322,208,904 - 22,251,868 (+)NCBI
UU_Cfam_GSD_1.01322,450,958 - 22,493,714 (+)NCBI
Fam91a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,218,923 - 16,258,745 (-)NCBI
SpeTri2.0NW_00493647023,645,233 - 23,684,841 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM91A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,640,293 - 15,726,846 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,640,286 - 15,681,826 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,359,647 - 16,401,026 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM91A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18118,342,452 - 118,391,634 (+)NCBI
ChlSab1.1 Ensembl8118,342,547 - 118,388,887 (+)Ensembl
Fam91a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473531,222,825 - 31,267,809 (-)NCBI

Position Markers
RH45611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,819,433 - 124,819,579UniSTSGRCh37
Build 368124,888,614 - 124,888,760RGDNCBI36
Celera8121,006,969 - 121,007,115RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,146,131 - 120,146,277UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
NCBI RH Map81458.1UniSTS
SHGC-53185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,827,429 - 124,827,640UniSTSGRCh37
Build 368124,896,610 - 124,896,821RGDNCBI36
Celera8121,014,966 - 121,015,177RGD
Celera8139,035,138 - 139,035,349UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8120,154,128 - 120,154,339UniSTS
RH94314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,827,429 - 124,827,589UniSTSGRCh37
Build 368124,896,610 - 124,896,770RGDNCBI36
Celera8121,014,966 - 121,015,126RGD
Celera8139,035,138 - 139,035,298UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8120,154,128 - 120,154,288UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
D8S1379E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,827,551 - 124,827,677UniSTSGRCh37
Build 368124,896,732 - 124,896,858RGDNCBI36
Celera8121,015,088 - 121,015,214RGD
Celera8139,035,260 - 139,035,386UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8120,154,250 - 120,154,376UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3079
Count of miRNA genes:1058
Interacting mature miRNAs:1281
Transcripts:ENST00000334705, ENST00000517912, ENST00000518333, ENST00000518976, ENST00000519721, ENST00000520246, ENST00000521166, ENST00000521704
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.


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 1
Medium 2023 1711 1530 475 1500 325 3494 852 1852 329 1378 1607 166 1 1174 1962 6 2
Low 416 1279 196 149 450 140 863 1345 1882 89 82 5 9 30 826
Below cutoff 1 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000334705   ⟹   ENSP00000335082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,768,439 - 123,815,452 (+)Ensembl
RefSeq Acc Id: ENST00000517912   ⟹   ENSP00000430158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,780,480 - 123,787,355 (+)Ensembl
RefSeq Acc Id: ENST00000518333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,808,759 - 123,812,760 (+)Ensembl
RefSeq Acc Id: ENST00000518976   ⟹   ENSP00000431097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,808,907 - 123,812,842 (+)Ensembl
RefSeq Acc Id: ENST00000519721   ⟹   ENSP00000429784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,768,646 - 123,814,773 (+)Ensembl
RefSeq Acc Id: ENST00000520246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,808,929 - 123,811,455 (+)Ensembl
RefSeq Acc Id: ENST00000521166   ⟹   ENSP00000429491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,768,456 - 123,810,479 (+)Ensembl
RefSeq Acc Id: ENST00000521704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,780,027 - 123,784,795 (+)Ensembl
RefSeq Acc Id: NM_001317917   ⟹   NP_001304846
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,768,439 - 123,815,452 (+)NCBI
CHM1_18124,820,954 - 124,867,970 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317918   ⟹   NP_001304847
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,768,439 - 123,810,661 (+)NCBI
CHM1_18124,820,954 - 124,863,179 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144963   ⟹   NP_659400
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,768,439 - 123,815,452 (+)NCBI
GRCh378124,780,679 - 124,827,692 (+)NCBI
Build 368124,850,063 - 124,896,873 (+)NCBI Archive
Celera8120,968,947 - 121,015,229 (+)RGD
HuRef8120,107,371 - 120,154,391 (+)RGD
CHM1_18124,820,954 - 124,867,970 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745485
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,768,503 - 123,812,846 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_659400   ⟸   NM_144963
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001304846   ⟸   NM_001317917
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001304847   ⟸   NM_001317918
- Peptide Label: isoform 3
- UniProtKB: Q658Y4 (UniProtKB/Swiss-Prot),   B4DUD8 (UniProtKB/TrEMBL),   E7ER68 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430158   ⟸   ENST00000517912
RefSeq Acc Id: ENSP00000431097   ⟸   ENST00000518976
RefSeq Acc Id: ENSP00000429784   ⟸   ENST00000519721
RefSeq Acc Id: ENSP00000335082   ⟸   ENST00000334705
RefSeq Acc Id: ENSP00000429491   ⟸   ENST00000521166
Protein Domains
FAM91_C   FAM91_N

Promoters
RGD ID:7214139
Promoter ID:EPDNEW_H12816
Type:initiation region
Name:FAM91A1_1
Description:family with sequence similarity 91 member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,768,439 - 123,768,499EPDNEW
RGD ID:6806680
Promoter ID:HG_KWN:62046
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:ENST00000395537,   OTTHUMT00000256607
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,849,626 - 124,850,126 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
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(chr8:244417-145054775)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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely 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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
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
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_144963.4(FAM91A1):c.2110A>G (p.Ile704Val) single nucleotide variant not provided [RCV000965085] Chr8:123808349 [GRCh38]
Chr8:124820589 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124443708-125305582)x1 copy number loss not provided [RCV000848210] Chr8:124443708..125305582 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_144963.4(FAM91A1):c.1278+6T>C single nucleotide variant not provided [RCV000956671] Chr8:123787756 [GRCh38]
Chr8:124799996 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26306 AgrOrtholog
COSMIC FAM91A1 COSMIC
Ensembl Genes ENSG00000176853 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000335082 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429491 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429784 UniProtKB/TrEMBL
  ENSP00000430158 UniProtKB/TrEMBL
  ENSP00000431097 UniProtKB/TrEMBL
Ensembl Transcript ENST00000334705 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517912 UniProtKB/TrEMBL
  ENST00000518976 UniProtKB/TrEMBL
  ENST00000519721 UniProtKB/TrEMBL
  ENST00000521166 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000176853 GTEx
HGNC ID HGNC:26306 ENTREZGENE
Human Proteome Map FAM91A1 Human Proteome Map
InterPro FAM91 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM91_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM91_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:157769 UniProtKB/Swiss-Prot
NCBI Gene 157769 ENTREZGENE
PANTHER PTHR28441 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM91_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM91_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671820 PharmGKB
UniProt B4DUD8 ENTREZGENE, UniProtKB/TrEMBL
  E7ER68 ENTREZGENE, UniProtKB/TrEMBL
  F91A1_HUMAN UniProtKB/Swiss-Prot
  G3V120_HUMAN UniProtKB/TrEMBL
  H0YBR6_HUMAN UniProtKB/TrEMBL
  H0YC80_HUMAN UniProtKB/TrEMBL
  Q658Y4 ENTREZGENE
  Q8N6F3_HUMAN UniProtKB/TrEMBL
UniProt Secondary B6YY23 UniProtKB/Swiss-Prot
  Q658T5 UniProtKB/Swiss-Prot
  Q8TE89 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM91A1  family with sequence similarity 91 member A1    family with sequence similarity 91, member A1  Symbol and/or name change 5135510 APPROVED