AutismKB 2.0

Annotation Detail for RIF1


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Basic Information Top
Gene Symbol:RIF1 ( DKFZp434D1026,DKFZp781N1478,FLJ12870 )
Gene Full Name: RAP1 interacting factor homolog (yeast)
Band: 2q23.3
Quick LinksEntrez ID:55183; OMIM: 608952; Uniprot ID:RIF1_HUMAN; ENSEMBL ID: ENSG00000080345; HGNC ID: 23207
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body3 / 7076142
blastocyst7 / 62319112
fetus21 / 56401237
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult83 / 193912142
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor21 / 26384579
glioma1 / 1068839
head and neck tumor9 / 13630266
kidney tumor5 / 6895972
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia4 / 9725041
normal113 / 336030733
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma5 / 46356107
skin tumor3 / 12494924
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor1 / 9025711
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal4 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood11 / 12347889
bone2 / 7165527
bone marrow2 / 4880140
brain26 / 110098923
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye11 / 21105452
heart2 / 8962622
intestine6 / 23447225
kidney11 / 21177751
larynx0 / 241450 
liver14 / 20774367
lung6 / 33697417
lymph3 / 4427067
lymph node4 / 9161043
mammary gland5 / 15327132
mouth6 / 6705289
muscle2 / 10771518
nerve1 / 1576863
ovary4 / 10205139
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate7 / 18934536
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach3 / 9661931
testis21 / 33044263
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214700_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts49.8
Adipocyte7.95
AdrenalCortex9.8
Adrenalgland7.05
Amygdala8.25
Appendix13.7
AtrioventricularNode9.55
BDCA4+_DentriticCells9.95
Bonemarrow8.35
BronchialEpithelialCells7.85
CD105+_Endothelial54.9
CD14+_Monocytes9.55
CD19+_BCells(neg._sel.)8.45
CD33+_Myeloid15.1
CD34+62.6
CD4+_Tcells12.3
CD56+_NKCells9.65
CD71+_EarlyErythroid8.4
CD8+_Tcells17.05
CardiacMyocytes19.9
Caudatenucleus7.35
Cerebellum6.85
CerebellumPeduncles9.45
CiliaryGanglion8.45
CingulateCortex8.55
Colorectaladenocarcinoma8.15
DorsalRootGanglion7.6
FetalThyroid8.3
Fetalbrain7.7
Fetalliver8.35
Fetallung6.05
GlobusPallidus7
Heart13.9
Hypothalamus8.15
Kidney7.5
Leukemia_chronicMyelogenousK-5629.05
Leukemia_promyelocytic-HL-607.2
Leukemialymphoblastic(MOLT-4)7.35
Liver12.7
Lung8.75
Lymphnode6.55
Lymphoma_burkitts(Daudi)11.85
Lymphoma_burkitts(Raji)14
MedullaOblongata7.15
OccipitalLobe7.3
OlfactoryBulb6.15
Ovary6.95
Pancreas6.95
PancreaticIslet9.05
ParietalLobe9.45
Pituitary9.5
Placenta7.65
Pons8.15
PrefrontalCortex10
Prostate9.25
Salivarygland7.3
SkeletalMuscle14
Skin10.5
SmoothMuscle9.4
Spinalcord8.45
SubthalamicNucleus7.8
SuperiorCervicalGanglion12.35
TemporalLobe7.75
Testis6.9
TestisGermCell7.15
TestisIntersitial7.5
TestisLeydigCell9.3
TestisSeminiferousTubule6.9
Thalamus8.6
Thymus5.9
Thyroid9.75
Tongue9.25
Tonsil8.2
Trachea6.8
TrigeminalGanglion9.6
Uterus6.45
UterusCorpus8.4
WholeBlood9.5
Wholebrain5.9
colon8.2
pineal_day10.04
pineal_night10.08
retina10.05
small_intestine7.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P5611
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala8.11 ± 0.21
Basal Forebrain7.74 ± 0.17
Basal Part of Pons7.61 ± 0.27
Cerebellar Cortex7.96 ± 0.3
Cerebellar Nuclei7.61 ± 0.24
Claustrum8.21 ± 0.37
Epithalamus7.67 ± 0.29
Frontal Lobe7.69 ± 0.34
Globus Pallidus7.66 ± 0.23
Hypothalamus7.74 ± 0.28
Insula7.61 ± 0.25
Limbic Lobe7.9 ± 0.39
Mesencephalon7.84 ± 0.32
Myelencephalon7.78 ± 0.32
Occipital Lobe8.14 ± 0.31
Parietal Lobe7.8 ± 0.31
Pontine Tegmentum7.82 ± 0.36
Striatum7.88 ± 0.36
Subthalamus7.86 ± 0.1
Temporal Lobe7.74 ± 0.32
Thalamus7.66 ± 0.29
White Matter8.61 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rif1CBCerebellum63.27
77.16
Rif1CTXCerebral cortex1.6
1.28
Rif1HIPHippocampal region2.87
2.39
Rif1HPFHippocampal formation2.62
2.04
Rif1HYHypothalamus0.49
0.55
Rif1LSXLateral septal complex2.59
2.36
Rif1MBMidbrain1.79
1.65
Rif1MYMedulla1.34
1.36
Rif1OLFOlfactory bulb2.29
2.37
Rif1PPons1.46
1.23
Rif1PALPallidum0.4
0.35
Rif1RHPRetrohippocampal region2.24
1.6
Rif1sAMYStriatum-like amygdalar nuclei0.84
0.54
Rif1STRStriatum0.66
0.66
Rif1STRdStriatum dorsal region0.53
0.63
Rif1STRvStriatum ventral region0.27
0.17
Rif1THThalamus1.02
0.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011486 17 299 315 SLIDNFALNPDILCSAK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018